SLC45A2
Gene name: solute carrier family 45, member 2OMIM ID: 606202
Chromosome location: 5p13.2
Mutations
| Disease/Phenotype | Albinism, oculocutaneous, type IV |
|---|---|
| Reference transcript | NM_016180.3 |
| DNA Change | c.113A>G |
| A.A. Change | p.His38Arg |
| Exon/Intron | exon 1 |
| Mutation Type | substitution |
| Reference | Konno T, Abe Y, Kawaguchi M, Storm K, Biervliet M, Courtens W, Kono M, Tomita Y, Suzuki T.Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2. Am J Med Genet A. 2009 Aug;149A(8):1773-6. |