Original source

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

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

Chromosome 3:171014539 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM951160

Most severe consequence
 
Missense variant
Evidence status

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 14 HGVS names - Show

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 8 transcripts, has 2684 sample genotypes and is mentioned in 1 citation.

Variant displays