Genomic variant #0000570338

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.114961462A>G
Reference Copied from the Exome Variant Server
DB-ID TMED7-TICAM2_000048
Frequency 2/12502
Freq. EA 0/8262
Freq. AA 2/4240
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.28T>C r.(?) p.(Trp10Arg)
TMED7 NM_181836.5 ?/? c.28T>C r.(?) p.(Trp10Arg)