Gene
OPN1SW
opsin 1, short wave sensitive
- HGNC 1012↗(opens in a new tab)
- Ensembl gene ENSG00000128617↗(opens in a new tab)
- NCBI Gene 611↗(opens in a new tab)
Summary
- Cytogenetic location
- 7q32.1
- Coordinates
- Chromosome 7: 128,772,485–128,775,794 (GRCh38)
- Exons
- 5 exons across 3.3 kb
- Protein
- 345 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- BOP, CBT
- Previous symbols
- BCP
- MANE Select transcript
- ENST00000249389.3NM_001385125.1
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Colour Vision Deficiency
- Blue Colour Vision Deficiency (Tritan)Autosomal dominant
A rare dominant difference in colour vision caused by changes in OPN1SW, the gene for the blue-sensitive cone pigment.
- 2 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How OPN1SW is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.1 kb of the gene's 3.3 kb; 1,038 of those bases code for the protein.
Traits linked to OPN1SW
The Human Phenotype Ontology lists these as features of the rare conditions OPN1SW can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). OPN1SW gene: opsin 1, short wave sensitive. Retrieved 16 October 2026, from https://dantelabs.com/genes/opn1sw
Dante Labs. OPN1SW gene: opsin 1, short wave sensitive [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/opn1sw
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