Genomic variant #0001176050

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.8975854T>C
Reference Copied from the Exome Variant Server
DB-ID A2ML1_000016
Frequency 1/11970
Freq. EA 1/8204
Freq. AA 0/3766
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
A2ML1 NM_144670.4 ?/? c.139T>C r.(?) p.(Tyr47His)