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SLC24A5 c.521G>A ;(p.R174K)
Variant ID: 15-48427112-G-A
NM_205850.2(
SLC24A5
):c.521G>A;(p.R174K)
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:
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: SLC24A5: R174K
PubMed Link:
32333855
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism.
The Journal Of Biological Chemistry
Jalloul, Ali H AH; Rogasevskaia, Tatiana P TP; Szerencsei, Robert T RT; Schnetkamp, Paul P M PP
Publication Date: 2016-06-17
Variant appearance in text: OCA6: 521G>A
PubMed Link:
27129268
Variant Present in the following documents:
Main text
View BVdb publication page