Genomic variant #0001176111

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.8990124G>A
Reference Copied from the Exome Variant Server
DB-ID A2ML1_000077
Frequency 1/12624
Freq. EA 1/8460
Freq. AA 0/4164
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
A2ML1 NM_144670.4 ?/? c.817G>A r.(?) p.(Glu273Lys)