SLC45A2 c.251T>C ;(p.L84P)

Variant ID: 5-33984438-A-G

NM_016180.3(SLC45A2):c.251T>C;(p.L84P)

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:

Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.

Scientific Reports
Shahzad, Mohsin M; Yousaf, Sairah S; Waryah, Yar M YM; Gul, Hadia H; Kausar, Tasleem T; Tariq, Nabeela N; Mahmood, Umair U; Ali, Muhammad M; Khan, Muzammil A MA; Waryah, Ali M AM; Shaikh, Rehan S RS; Riazuddin, Saima S; Ahmed, Zubair M ZM; ,
Publication Date: 2017-03-07

Variant appearance in text: SLC45A2: 251T>C; Leu84Pro
PubMed Link: 28266639
Variant Present in the following documents:
  • srep44185-s1.pdf
View BVdb publication page