Gene entry
OCA2
OCA2 melanosomal transmembrane protein
- Chromosome
- 15
- Cytoband
- 15q12-q13.1
- Variants (rsID)
- 93
OCA2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 15 (region 15q12-q13.1). Its official name is “OCA2 melanosomal transmembrane protein”. The reference table lists 93 variants (rsID) for this gene.
Clinically classified variants
14 reference-table entries with clinical significance.
- rs1800407Benignsingle nucleotide variantSkin/hair/eye pigmentation, variation in, 1|Tyrosinase-positive oculocutaneous albinism
- rs1800414Benignsingle nucleotide variantTyrosinase-positive oculocutaneous albinism
- rs121918166Conflicting interpretationssingle nucleotide variantTyrosinase-positive oculocutaneous albinism|Skin/hair/eye pigmentation, variation in, 1|Tyrosinase-positive oculocutaneous albinism|Inborn genetic diseases|See cases
- rs121918169Conflicting interpretationssingle nucleotide variantTyrosinase-positive oculocutaneous albinism|Skin/hair/eye pigmentation, variation in, 1
- rs137956605Conflicting interpretationssingle nucleotide variantTyrosinase-positive oculocutaneous albinism
- rs144812594Conflicting interpretationssingle nucleotide variantTyrosinase-positive oculocutaneous albinism|Nonsyndromic Oculocutaneous Albinism
- rs145242923Conflicting interpretationssingle nucleotide variantTyrosinase-positive oculocutaneous albinism
- rs183487020Conflicting interpretationssingle nucleotide variantTyrosinase-positive oculocutaneous albinism
- rs190612616Conflicting interpretationssingle nucleotide variantTyrosinase-positive oculocutaneous albinism
- rs61745150Conflicting interpretationssingle nucleotide variantTyrosinase-positive oculocutaneous albinism
- rs74653330Conflicting interpretationssingle nucleotide variantTyrosinase-positive oculocutaneous albinism
- rs121918167Pathogenicsingle nucleotide variantTyrosinase-positive oculocutaneous albinism|Nonsyndromic Oculocutaneous Albinism|Skin/hair/eye pigmentation, variation in, 1|Tyrosinase-positive oculocutaneous albinism
- rs121918170Pathogenicsingle nucleotide variantTyrosinase-positive oculocutaneous albinism|Skin/hair/eye pigmentation, variation in, 1|Tyrosinase-positive oculocutaneous albinism
- rs368124046Pathogenicsingle nucleotide variantTyrosinase-positive oculocutaneous albinism|Tyrosinase-positive oculocutaneous albinism|Skin/hair/eye pigmentation, variation in, 1
Other listed variants
- rs728404
- rs768546
- rs921221
- rs958076
- rs1391624
- rs1448484
- rs1448485
- rs1470608
- rs1597196
- rs2003176
- rs2055291
- rs2122005
- rs2279728
- rs2290100
- rs2311459
- rs2594894
- rs2594900
- rs2594934
- rs2703970
- rs2871771
- rs2871772
- rs3930739
- rs4322616
- rs4411468
- rs4476137
- rs4778116
- rs4778138
- rs4778179
- rs4778199
- rs6497246
- rs7162117
- rs7164752
- rs7168800
- rs7174027
- rs7179419
- rs7179994
- rs8031442
- rs8033127
- rs8034072
- rs8035334
- rs11852452
- rs12438490
- rs12592159
- rs13313425
- rs16950399
- rs16950402
- rs17565757
- rs56037930
- rs58661359
- rs60583023
- rs62007492
- rs66908664
- rs72708989
- rs72710565
- rs72714114
- rs72714116
- rs74409036
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.