Variant: rs121912619 

    present in Gene: SLC45A2
    present in Chromosome: 5
    Position on Chromosome: 33951628
    Alleles of this Variant: A/G

rs121912619 in SLC45A2 gene and Oculocutaneous Albinism, Type IV PMID 23504663 2013 DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

PMID 14722913 2004 Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4.

PMID 15656822 2005 A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene.

PMID 19865097 2010 A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.

PMID 14961451 2004 Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.

PMID 11574907 2001 Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4.

PMID 17768386 2007 SLC45A2 variations in Indian oculocutaneous albinism patients.