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SLC45A2 c.563G>T ;(p.G188V)
Variant ID: 5-33964121-C-A
NM_016180.3(
SLC45A2
):c.563G>T;(p.G188V)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Membrane transport proteins in melanosomes: Regulation of ions for pigmentation.
Biochimica Et Biophysica Acta. Biomembranes
Wiriyasermkul, Pattama P; Moriyama, Satomi S; Nagamori, Shushi S
Publication Date: 2020-12-01
Variant appearance in text: SLC45A2: G188V
PubMed Link:
32333855
Variant Present in the following documents:
Main text
View BVdb publication page
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: G188V
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: MATP: G188V
PubMed Link:
14961451
Variant Present in the following documents:
Main text
View BVdb publication page