Genomic variant #0001290037

Chromosome 13
DNA change (genomic) (Relative to hg19 / GRCh37) g.79176674G>A
Reference Copied from the Exome Variant Server
DB-ID POU4F1_000033
Frequency 49/12990
Freq. EA 47/8590
Freq. AA 2/4400
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
POU4F1 NM_006237.3 ?/? c.136C>T r.(?) p.(Leu46Phe)
POU4F1-AS1 NR_047001.1 ?/? n.385-2762G>A r.(?) p.(Leu46Phe)