Variant ID: 15-28234747-C-G

NM_000275.2(OCA2):c.1182G>C;(p.Met394Ile)

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: Met394Ile
PMID: 20876667
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000353809.5 c.1110G>C p.Met370Ile missense_variant,splice_region_variant 10/23 -
ENST00000354638.3 c.1182G>C p.Met394Ile missense_variant,splice_region_variant 11/24 -
ENST00000382996.2 c.1182G>C p.Met394Ile missense_variant,splice_region_variant 11/19 -
NM_000275.3 c.1182G>C p.Met394Ile missense_variant,splice_region_variant 11/24 -
NM_001300984.2 c.1110G>C p.Met370Ile missense_variant,splice_region_variant 10/23 -