Genomic variant #0000721458

Chromosome 7
DNA change (genomic) (Relative to hg19 / GRCh37) g.4947176C>A
Reference Copied from the Exome Variant Server
DB-ID MMD2_000014
Frequency 1/12414
Freq. EA 1/8360
Freq. AA 0/4054
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
MMD2 NM_198403.3 ?/? c.592G>T r.(?) p.(Gly198Cys)