TTYH1 tweety family member 1
Gene ID: 57348, updated on 19-Sep-2024Gene type: protein coding
- See all available tests in GTR for this gene
- Go to complete Gene record for TTYH1
- Go to Variation Viewer for TTYH1 variants
Summary
This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-independent, volume-sensitive large conductance chloride(-) channel. Three transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jan 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study identifies loci affecting blood copper, selenium and zinc. GeneReviews: Not available |
Genomic context
- Location:
- 19q13.42
- Sequence:
- Chromosome: 19; NC_000019.10 (54415464..54436904)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TTYH1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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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