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SOX9 SRY-box transcription factor 9 [ Homo sapiens (human) ]

Gene ID: 6662, updated on 14-Nov-2024

Summary

Official Symbol
SOX9provided by HGNC
Official Full Name
SRY-box transcription factor 9provided by HGNC
Primary source
HGNC:HGNC:11204
See related
Ensembl:ENSG00000125398 MIM:608160; AllianceGenome:HGNC:11204
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CMD1; SRA1; CMPD1; SRXX2; SRXY10
Summary
The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008]
Expression
Broad expression in testis (RPKM 26.5), brain (RPKM 25.2) and 17 other tissues See more
Orthologs
NEW
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Try the new Transcript table

Genomic context

See SOX9 in Genome Data Viewer
Location:
17q24.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (72121020..72126416)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (72994224..72999619)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (70117161..70122557)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723517 Neighboring gene long intergenic non-protein coding RNA 1152 Neighboring gene long intergenic non-protein coding RNA 2097 Neighboring gene SOX9 antisense RNA 1 Neighboring gene SOX9 enhancer E1 Neighboring gene SOX9 enhancer eALDI Neighboring gene TES enhancer upstream of SOX9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:70113837-70114458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:70115824-70116324 Neighboring gene SOX9 promoter region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:70119336-70119859 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:70181507-70182008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:70201265-70201766 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:70201767-70202266 Neighboring gene SOX9 enhancer E7 Neighboring gene uncharacterized LOC124900392 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8912 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8913 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12668 Neighboring gene long intergenic non-protein coding RNA 2003

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Camptomelic dysplasia
MedGen: C1861922 OMIM: 114290 GeneReviews: Campomelic Dysplasia
not available

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2023-05-10)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2023-05-10)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
EBI GWAS Catalog
Genetic variation in prostate-specific antigen-detected prostate cancer and the effect of control selection on genetic association studies.
EBI GWAS Catalog
Genetics of coronary artery calcification among African Americans, a meta-analysis.
EBI GWAS Catalog
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
EBI GWAS Catalog
Genome-wide association study of lung function decline in adults with and without asthma.
EBI GWAS Catalog
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
EBI GWAS Catalog
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
EBI GWAS Catalog
Identification of a susceptibility locus for severe adolescent idiopathic scoliosis on chromosome 17q24.3.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables bHLH transcription factor binding IEA
Inferred from Electronic Annotation
more info
 
enables beta-catenin binding IEA
Inferred from Electronic Annotation
more info
 
enables chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables cis-regulatory region sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables pre-mRNA intronic binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase A catalytic subunit binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in ERK1 and ERK2 cascade ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in Harderian gland development IEA
Inferred from Electronic Annotation
more info
 
involved_in Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in Sertoli cell development IEA
Inferred from Electronic Annotation
more info
 
involved_in Sertoli cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in anterior head development IEA
Inferred from Electronic Annotation
more info
 
involved_in aortic valve morphogenesis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in astrocyte fate commitment IEA
Inferred from Electronic Annotation
more info
 
involved_in bone mineralization IEA
Inferred from Electronic Annotation
more info
 
involved_in branching involved in ureteric bud morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in bronchus cartilage development IEA
Inferred from Electronic Annotation
more info
 
involved_in canonical Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in cartilage condensation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cartilage development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell fate specification ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell proliferation involved in heart morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in cell-cell adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to BMP stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to epidermal growth factor stimulus ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in cellular response to heparin ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in cellular response to interleukin-1 IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in cellular response to mechanical stimulus ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in cellular response to retinoic acid IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in cellular response to transforming growth factor beta stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in chondrocyte differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in chondrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in chondrocyte differentiation involved in endochondral bone morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in chondrocyte hypertrophy ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in chromatin remodeling IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cochlea morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
involved_in endocardial cushion morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in endocrine pancreas development IEA
Inferred from Electronic Annotation
more info
 
involved_in epidermal growth factor receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in epithelial cell proliferation involved in prostatic bud elongation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in epithelial tube branching involved in lung morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in extracellular matrix assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in glandular epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in glial cell fate specification IEA
Inferred from Electronic Annotation
more info
 
involved_in growth plate cartilage chondrocyte growth ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in hair follicle development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in heart development IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in heart valve development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in heart valve formation IEA
Inferred from Electronic Annotation
more info
 
involved_in heart valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in intestinal epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in intestinal epithelial structure maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in intrahepatic bile duct development IEA
Inferred from Electronic Annotation
more info
 
involved_in lacrimal gland development IEA
Inferred from Electronic Annotation
more info
 
involved_in limb bud formation IEA
Inferred from Electronic Annotation
more info
 
involved_in lung smooth muscle development IEA
Inferred from Electronic Annotation
more info
 
involved_in male germ-line sex determination ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in male gonad development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in male gonad development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mammary gland development IEA
Inferred from Electronic Annotation
more info
 
involved_in mesenchymal cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in mesenchymal cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in metanephric nephron tubule formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in morphogenesis of a branching epithelium ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in morphogenesis of an epithelium IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in negative regulation of DNA-templated transcription IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of beta-catenin-TCF complex assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of biomineral tissue development IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of biomineral tissue development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of bone mineralization IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of canonical Wnt signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of chondrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of epithelial cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of fatty acid oxidation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of immune system process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of mesenchymal cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of miRNA transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of myoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of ossification IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of ossification ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of osteoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of photoreceptor cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neural crest cell development IEA
Inferred from Electronic Annotation
more info
 
involved_in neural crest cell fate specification ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neuron fate specification IEA
Inferred from Electronic Annotation
more info
 
involved_in notochord development IEA
Inferred from Electronic Annotation
more info
 
involved_in nucleosome assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in oligodendrocyte differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in otic vesicle formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of DNA-templated transcription IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of branching involved in ureteric bud morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of cartilage development IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of cell proliferation involved in heart morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of chondrocyte differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in positive regulation of chondrocyte differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of chondrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of chondrocyte proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of epithelial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of epithelial cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of epithelial cell proliferation IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in positive regulation of epithelial cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of extracellular matrix assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of kidney development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of male gonad development IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of mesenchymal cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of mesenchymal stem cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of stem cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in prostate gland development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in protein localization to nucleus IEA
Inferred from Electronic Annotation
more info
 
involved_in protein-containing complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of branching involved in lung morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cell adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cell cycle process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cell population proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of cell proliferation involved in tissue homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of epithelial cell proliferation involved in lung morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in renal vesicle induction ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in response to fatty acid ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in response to organic cyclic compound IEA
Inferred from Electronic Annotation
more info
 
involved_in retina development in camera-type eye ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in retinal rod cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in skeletal system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in somatic stem cell population maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in stem cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in tissue homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in trachea cartilage development IEA
Inferred from Electronic Annotation
more info
 
involved_in transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in type I pneumocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in ureter morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in ureter smooth muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in ureter urothelium development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of transcription regulator complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
transcription factor SOX-9
Names
SRY (sex determining region Y)-box9
SRY (sex-determining region Y)-box 9 protein
SRY-box 9
SRY-related HMG-box, gene 9

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012490.1 RefSeqGene

    Range
    5001..10397
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000346.4NP_000337.1  transcription factor SOX-9

    See identical proteins and their annotated locations for NP_000337.1

    Status: REVIEWED

    Source sequence(s)
    AC007461, BC007951, BC018276, Z46629
    Consensus CDS
    CCDS11689.1
    UniProtKB/Swiss-Prot
    P48436, Q53Y80
    UniProtKB/TrEMBL
    B4DI77
    Related
    ENSP00000245479.2, ENST00000245479.3
    Conserved Domains (2) summary
    cd01388
    Location:104174
    SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...
    pfam12444
    Location:2294
    Sox_N; Sox developmental protein N terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    72121020..72126416
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    72994224..72999619
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)