Bibliome.ai browser hg19
Search
About
Stats
FAQ
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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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