TMEM53 transmembrane protein 53
Gene ID: 79639, updated on 27-Aug-2024Gene type: protein coding
Also known as: CTDI; NET4
- See all available tests in GTR for this gene
- Go to complete Gene record for TMEM53
- Go to Variation Viewer for TMEM53 variants
Summary
Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Craniotubular dysplasia, Ikegawa type | not available |
Genomic context
- Location:
- 1p34.1
- Sequence:
- Chromosome: 1; NC_000001.11 (44653247..44674481, complement)
- Total number of exons:
- 3
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for TMEM53 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
- Variation ViewerRelated Variants
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