Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: 0.01 (A)
Location

Chromosome 2:219575194 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM004796

Most severe consequence
 
Missense variant
Evidence status

Synonyms

Uniprot VAR_015110

HGVS names

This variant has 3 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip, Illumina_HumanOmni5

About this variant

This variant overlaps 10 transcripts and has 2505 sample genotypes.

Variant displays