Genomic variant #0000373178

Chromosome 3
DNA change (genomic) (Relative to hg19 / GRCh37) g.48581056C>T
Reference Copied from the Exome Variant Server
DB-ID PFKFB4_000088
Frequency 2/13006
Freq. EA 0/8600
Freq. AA 2/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PFKFB4 NM_004567.2 ?/? c.335G>A r.(?) p.(Arg112His)