Genomic variant #0000570319

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.114952055G>A
Reference Copied from the Exome Variant Server
DB-ID TMED7-TICAM2_000029
Frequency 1/13004
Freq. EA 1/8600
Freq. AA 0/4404
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TMED7-TICAM2 NM_001164468.2 ?/? c.526C>T r.(?) p.(Arg176*)
TMED7 NM_181836.5 ?/? c.526C>T r.(?) p.(Arg176*)