Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y|MAF: 0.30 (C)
Location

Chromosome 1:50200843 (forward strand)|View in location tab

Most severe consequence
 
Missense variant
Evidence status

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 10 HGVS names - Hide

1:g.50200843C>T
ENST00000371824.5:c.774-8C>T
ENST00000448907.6:c.783-8C>T
ENST00000371821.5:c.823C>T
ENSP00000360886.1:p.Pro275Ser
ENST00000357083.8:c.882-8C>T
ENST00000371819.1:c.789-8C>T
ENST00000371827.5:c.774-8C>T
ENST00000371823.8:c.808C>T
ENSP00000360888.4:p.Pro270Ser

Genotyping chips

This variant has assays on 5 chips - Show

About this variant

This variant overlaps 8 transcripts, has 2512 sample genotypes and is mentioned in 2 citations.

Variant displays