Genomic variant #0000128305

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.156212593A>C
Reference Copied from the Exome Variant Server
DB-ID PMF1-BGLAP_000008
Frequency 1/13006
Freq. EA 1/8600
Freq. AA 0/4406
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.583A>C r.(?) p.(Arg48Ser)
BGLAP NM_199173.4 ?/? c.144A>C r.(?) p.(Arg48Ser)