Genomic variant #0001176129

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.8993993T>C
Reference Copied from the Exome Variant Server
DB-ID A2ML1_000095
Frequency 310/12072
Freq. EA 2/8262
Freq. AA 308/3810
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
A2ML1 NM_144670.4 ?/? c.1109T>C r.(?) p.(Phe370Ser)