TMEM240 transmembrane protein 240
Gene ID: 339453, updated on 2-Nov-2024Gene type: protein coding
Also known as: SCA21; C1orf70
- See all available tests in GTR for this gene
- Go to complete Gene record for TMEM240
- Go to Variation Viewer for TMEM240 variants
Summary
This gene encodes a transmembrane-domain containing protein found in the brain and cerebellum. Mutations in this gene result in spinocerebellar ataxia 21. [provided by RefSeq, Dec 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Spinocerebellar ataxia type 21 | See labs |
Genomic context
- Location:
- 1p36.33
- Sequence:
- Chromosome: 1; NC_000001.11 (1534778..1540624, complement)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TMEM240 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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