Genomic variant #0000557439

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.75428074G>A
Reference Copied from the Exome Variant Server
DB-ID SV2C_000031
Frequency 27/12484
Freq. EA 0/8386
Freq. AA 27/4098
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SV2C NM_014979.1 ?/? c.499G>A r.(?) p.(Val167Ile)