Genomic variant #0001176067

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.8976444G>T
Reference Copied from the Exome Variant Server
DB-ID A2ML1_000033
Frequency 2/12070
Freq. EA 0/8238
Freq. AA 2/3832
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
A2ML1 NM_144670.4 ?/? c.375G>T r.(?) p.(Gln125His)