Genomic variant #0000557498

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.75505712G>A
Reference Copied from the Exome Variant Server
DB-ID SV2C_000081
Frequency 1/12986
Freq. EA 0/8598
Freq. AA 1/4388
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SV2C NM_014979.1 ?/? c.913G>A r.(?) p.(Gly305Arg)