Genomic variant #0000557489

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.75490906G>A
Reference Copied from the Exome Variant Server
DB-ID SV2C_000072
Frequency 2/11888
Freq. EA 2/8188
Freq. AA 0/3700
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SV2C NM_014979.1 ?/? c.743G>A r.(?) p.(Arg248His)