Genomic variant #0000721472

Chromosome 7
DNA change (genomic) (Relative to hg19 / GRCh37) g.4949553C>T
Reference Copied from the Exome Variant Server
DB-ID MMD2_000028
Frequency 5/12436
Freq. EA 2/8368
Freq. AA 3/4068
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
MMD2 NM_198403.3 ?/? c.496G>A r.(?) p.(Val166Ile)