Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 21:45990414 (forward strand)|View in location tab

Most severe consequence
 
Missense variant
Evidence status

Synonyms

Uniprot VAR_058220

HGVS names

This variant has 8 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_HumanOmni1-Quad

About this variant

This variant overlaps 4 transcripts and has 1 sample genotype.

Variant displays