Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
C/T | Ancestral: C | Ambiguity code: Y | MAF: 0.36 (T)
Location

Chromosome 2:162267541 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM066881

Most severe consequence
Evidence status

This variation has 5 synonyms - click the plus to show

This variation has 3 HGVS names - click the plus to show

2:g.162267541C>T
ENST00000263642.2:c.2836G>A
ENSP00000263642.2:p.Ala946Thr

This variation has assays on 12 chips - click the plus to show

About this variant

This variant overlaps 1 transcript, has 3714 individual genotypes, is associated with 4 phenotypes and is mentioned in 78 citations.

Variation displays