Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y | MAF: 0.03 (T)
Location

Chromosome 6:112061120 (forward strand) | View in location tab

Most severe consequence
 
Missense variant
Evidence status

This variant has 3 synonyms - click the plus to show

This variant has 17 HGVS names - click the plus to show

6:g.112061120C>T
ENST00000620524.3:n.112C>T
ENST00000361714.5:c.178C>T
ENSP00000354734.2:p.Arg60Cys
ENST00000409166.5:c.-507-159C>T
ENST00000454589.5:c.178C>T
ENSP00000395928.1:p.Arg60Cys
ENST00000368663.4:c.178C>T
ENSP00000357652.4:p.Arg60Cys
ENST00000368664.7:c.232C>T
ENSP00000357653.3:p.Arg78Cys
ENST00000230529.9:c.178C>T
ENSP00000230529.5:p.Arg60Cys
ENST00000368666.6:c.232C>T
ENSP00000357655.3:p.Arg78Cys
ENST00000604763.5:c.178C>T
ENSP00000473777.1:p.Arg60Cys

This variant has assays on 7 chips - click the plus to show

About this variant

This variant overlaps 10 transcripts, has 2506 sample genotypes and is associated with 1 phenotype.

Variant displays