Genomic variant #0001290034

Chromosome 13
DNA change (genomic) (Relative to hg19 / GRCh37) g.79176587G>C
Reference Copied from the Exome Variant Server
DB-ID POU4F1_000030
Frequency 2/13002
Freq. EA 0/8600
Freq. AA 2/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
POU4F1 NM_006237.3 ?/? c.223C>G r.(?) p.(Pro75Ala)
POU4F1-AS1 NR_047001.1 ?/? n.385-2849G>C r.(?) p.(Pro75Ala)