Genomic variant #0000721459

Chromosome 7
DNA change (genomic) (Relative to hg19 / GRCh37) g.4947188A>C
Reference Copied from the Exome Variant Server
DB-ID MMD2_000015
Frequency 1/12370
Freq. EA 0/8334
Freq. AA 1/4036
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
MMD2 NM_198403.3 ?/? c.580T>G r.(?) p.(Phe194Val)