Genomic variant #0001176091

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.8988132G>A
Reference Copied from the Exome Variant Server
DB-ID A2ML1_000057
Frequency 1/12522
Freq. EA 1/8414
Freq. AA 0/4108
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
A2ML1 NM_144670.4 ?/? c.513G>A r.(?) p.(Trp171*)