PMID: 14961451

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

American journal of human genetics

K Inagaki, T Suzuki, H Shimizu, N Ishii, Y Umezawa, J Tada, N Kikuchi, M Takata, K Takamori, M Kishibe, M Tanaka, Y Miyamura, S Ito, Y Tomita

2004-03

8 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
5-33944827-C-A	SLC45A2	c.1519G>T	p.Val507Leu	Missense	7/7	-
5-33982446-C-T	SLC45A2	c.457G>A	p.Asp153Asn	Missense	2/7	-
5-33982434-C-T	SLC45A2	c.469G>A	p.Asp157Asn	Missense	2/7	-
5-33963870-C-T	SLC45A2	c.814G>A	p.Glu272Lys	Missense	3/7	-
5-33944827-C-G	SLC45A2	c.1519G>C	p.Val507Leu	Missense	7/7	-
5-33964121-C-A	SLC45A2	c.563G>T	p.Gly188Val	Missense	3/7	-
5-33944848-T-G	SLC45A2	c.1498A>C	p.Thr500Pro	Missense	7/7	-
5-33984517-G-A	SLC45A2	c.172C>T	p.Pro58Ser	Missense	1/7	-