NPAP1 nuclear pore associated protein 1
Gene ID: 23742, updated on 14-Nov-2024Gene type: protein coding
Also known as: C15orf2
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- Go to Variation Viewer for NPAP1 variants
Summary
This intronless retrogene is located in the Prader-Willi syndrome region on chromosome 15. This gene exhibits tissue-specific imprinting. Expression in adult testis and brain is biallelic, while expression in fetal brain is monoallelic and only from the paternal chromosome. The encoded protein is associated with the nuclear pore complex. [provided by RefSeq, Mar 2021]
Associated conditions
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| Description | Tests |
|---|---|
| Genome-wide association study of chronic periodontitis in a general German population. GeneReviews: Not available | |
| Prader-Willi syndrome | not available |
Genomic context
- Location:
- 15q11.2
- Sequence:
- Chromosome: 15; NC_000015.10 (24675775..24683393)
- Total number of exons:
- 1
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NPAP1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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