Genomic variant #0000721463

Chromosome 7
DNA change (genomic) (Relative to hg19 / GRCh37) g.4947235C>T
Reference Copied from the Exome Variant Server
DB-ID MMD2_000019
Frequency 2/12410
Freq. EA 0/8354
Freq. AA 2/4056
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
MMD2 NM_198403.3 ?/? c.538-5G>A r.spl? p.?