OPN1SW opsin 1, short wave sensitive
Gene ID: 611, updated on 17-Sep-2024Gene type: protein coding
Also known as: BCP; BOP; CBT
- See all available tests in GTR for this gene
- Go to complete Gene record for OPN1SW
- Go to Variation Viewer for OPN1SW variants
Summary
This gene belongs to the G-protein coupled receptor 1 family, opsin subfamily. It encodes the blue cone pigment gene which is one of three types of cone photoreceptors responsible for normal color vision. Defects in this gene are the cause of tritan color blindness (tritanopia). Affected individuals lack blue and yellow sensory mechanisms while retaining those for red and green. Defective blue vision is characteristic. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Blue color blindness | See labs |
| Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances. GeneReviews: Not available |
Genomic context
- Location:
- 7q32.1
- Sequence:
- Chromosome: 7; NC_000007.14 (128772485..128775794, complement)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for OPN1SW 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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