Variant ID: 5-33982434-C-T

NM_016180.3(SLC45A2):c.469G>A;(p.Asp157Asn)

This variant was identified in 4 publications




Publications:


Membrane transport proteins in melanosomes: Regulation of ions for pigmentation.

Biochimica Et Biophysica Acta. Biomembranes
P Wiriyasermkul, S Moriyama, S Nagamori
Publication Date: 2020-04-22

Variant appearance in text: MATP: D157N
PMID: 32333855
View BVdb publication page



Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.

Molecular Medicine Reports
JM Ko, JA Yang, SY Jeong, HJ Kim
Publication Date: 2012-04

Variant appearance in text: SLC45A2: 469G>A
PMID: 22294196
View BVdb publication page



Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

American Journal Of Epidemiology
OA Panagiotou, E Evangelou, JP Ioannidis
Publication Date: 2010-10-15

Variant appearance in text: MATP: Asp157Asn
PMID: 20876667
View BVdb publication page



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
Publication Date: 2004-03

Variant appearance in text: OCA4: D157N
PMID: 14961451
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000296589.4 c.469G>A p.Asp157Asn missense_variant 2/7 -
ENST00000342059.3 c.385+1870G>A - intron_variant - 1/5
ENST00000345083.5 c.469G>A p.Asp157Asn missense_variant 2/5 -
ENST00000382102.3 c.469G>A p.Asp157Asn missense_variant 2/6 -
ENST00000505056.1 n.364+1870G>A - intron_variant,non_coding_transcript_variant - 1/1
ENST00000509381.1 c.469G>A p.Asp157Asn missense_variant 2/4 -
ENST00000510600.1 c.37+1870G>A - intron_variant - 1/4
NM_001012509.4 c.469G>A p.Asp157Asn missense_variant 2/6 -
NM_001297417.3 c.469G>A p.Asp157Asn missense_variant 2/4 -
NM_016180.5 c.469G>A p.Asp157Asn missense_variant 2/7 -