Genomic variant #0000475342

Chromosome 4
DNA change (genomic) (Relative to hg19 / GRCh37) g.39343992C>G
Reference Copied from the Exome Variant Server
DB-ID RFC1_000204
Frequency 1/13006
Freq. EA 0/8600
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RFC1 NM_002913.4 ?/? c.304G>C r.(?) p.(Asp102His)