SLC45A2 c.172C>T ;(p.P58S)

Variant ID: 5-33984517-G-A

NM_016180.3(SLC45A2):c.172C>T;(p.P58S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: SLC45A2: P58S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



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

American Journal Of Human Genetics
Inagaki, Katsuhiko K; Suzuki, Tamio T; Shimizu, Hiroshi H; Ishii, Norihisa N; Umezawa, Yoshinori Y; Tada, Joji J; Kikuchi, Noriaki N; Takata, Minoru M; Takamori, Kenji K; Kishibe, Mari M; Tanaka, Michi M; Miyamura, Yoshinori Y; Ito, Shiro S; Tomita, Yasushi Y
Publication Date: 2004-03

Variant appearance in text: OCA4: P58S
PubMed Link: 14961451
Variant Present in the following documents:
  • Main text
View BVdb publication page