Genomic variant #0000128289

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.156212068T>C
Reference Copied from the Exome Variant Server
DB-ID PMF1-BGLAP_000006
Frequency 6/13002
Freq. EA 0/8598
Freq. AA 6/4404
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PMF1-BGLAP NM_001199661.1 ?/? c.504-276T>C r.(?) p.(Cys16Arg)
BGLAP NM_199173.4 ?/? c.46T>C r.(?) p.(Cys16Arg)