Genomic variant #0001176117

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.8990987T>C
Reference Copied from the Exome Variant Server
DB-ID A2ML1_000083
Frequency 2/12258
Freq. EA 1/8324
Freq. AA 1/3934
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
A2ML1 NM_144670.4 ?/? c.911T>C r.(?) p.(Ile304Thr)