OCA2 c.1663C>T ;(p.R555C)

Variant ID: 15-28202855-G-A

NM_000275.2(OCA2):c.1663C>T;(p.R555C)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism.

Frontiers In Genetics
Ma, Linya L; Zhu, Jianjian J; Wang, Jing J; Huang, Yazhou Y; Zhang, Jibo J; Wang, Chao C; Zhou, Yuan Y; Peng, Dan D
Publication Date: 2021

Variant appearance in text: OCA2: 1663C>T; R555C
PubMed Link: 34707637
Variant Present in the following documents:
  • Main text
  • fgene-12-715437.pdf
View BVdb publication page