rs1800419

This is a synonymous variant in the OCA2 gene — it does not change the protein's amino acid sequence.

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ClinVar annotation

Benign★★★☆
8 submitters2 publications

SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES (SHEP1); Tyrosinase-positive oculocutaneous albinism (OCA2); not specified

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Research that mentions this SNP (1)

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SLC45A2: a novel malignant melanoma-associated gene
AssociationN=376Fernandez LP et al.(2008)· Human Mutation

A Spanish case-control study (131 melanoma patients, 245 controls) investigated 23 SNPs in six pigmentation genes (ASP, OCA2, TYR, TYRP1, SILV, SLC45A2) for melanoma susceptibility. The variant allele of SLC45A2 c.1122C>G (p.Phe374Leu, rs16891982) was associated with protection from melanoma (OR 0.41, 95% CI 0.24-0.70, adjusted P=0.008), validated by associations with dark hair, skin, and eye color.

Traits studied:Childhood sunburnsEye colorHair colorMalignant melanomaPhototypeSkin colorSolar lentiginesTumor depth (Breslow index)Tumor location
PubMedDOIMetascience Observatory

About OCA2

This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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