Original source

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

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

Chromosome 8:96160337 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM0910800

Most severe consequence
 
Missense variant
Evidence status

Synonyms

Uniprot VAR_063025

HGVS names

This variant has 7 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 3 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 1 phenotype.

Variant displays