Homo sapiens OCA2 melanosomal transmembrane protein (OCA2), transcript - Nucleotide

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Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism. [Mol Genet Genomic Med. 2024]
Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism.
Jiang B, Zhang H, Kan Y, Gao X, Du Z, Liu Q. Mol Genet Genomic Med. 2024 Jan; 12(1):e2297. Epub 2023 Oct 26.
MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma. [Clin Genet. 2023]
MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma.
Jedlickova J, Vajter M, Barta T, Black GCM, Perveen R, Mares J, Fichtl M, Kousal B, Dudakova L, Liskova P. Clin Genet. 2023 Oct; 104(4):418-426. Epub 2023 Jun 15.
Native American genetic ancestry and pigmentation allele contributions to skin color in a Caribbean population. [Elife. 2023]
Native American genetic ancestry and pigmentation allele contributions to skin color in a Caribbean population.
Ang KC, Canfield VA, Foster TC, Harbaugh TD, Early KA, Harter RL, Reid KP, Leong SL, Kawasawa Y, Liu D, et al. Elife. 2023 Jun 9; 12. Epub 2023 Jun 9.

RefSeq alternative splicing
See 59 reference mRNA sequence splice variants for the OCA2 gene.
RefSeq protein product
See the reference protein sequence for P protein isoform 1 (NP_000266.2).

Protein
Protein sequence from Nucleotide coding region
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Taxonomy
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Functional Class
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OMIM
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PubMed (RefSeq)
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Nucleotide