Variant ID: 15-28263548-G-A

NM_000275.2(OCA2):c.802C>T;(p.Gln268*)

This variant was identified in 1 publication




Publications:


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: OCA2: Gln268Ter
PMID: 20876667
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000353809.5 c.802C>T p.Gln268* stop_gained 7/23 -
ENST00000354638.3 c.802C>T p.Gln268* stop_gained 7/24 -
ENST00000382996.2 c.802C>T p.Gln268* stop_gained 7/19 -
ENST00000445578.1 c.574-2216C>T - intron_variant - 5/5
NM_000275.3 c.802C>T p.Gln268* stop_gained 7/24 -
NM_001300984.2 c.802C>T p.Gln268* stop_gained 7/23 -