Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
G/C/T|Ancestral: G|Ambiguity code: B|MAF: < 0.01 (C)
Location

Chromosome 2:48963249 (forward strand)|View in location tab

Most severe consequence
 
Missense variant
Evidence status

Synonyms

Uniprot VAR_013904

HGVS names

This variant has 18 HGVS names - Show

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 10 transcripts and has 2774 sample genotypes.

Variant displays