Genomic variant #0000128302

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.156212548C>T
Reference Copied from the Exome Variant Server
DB-ID PMF1-BGLAP_000030
Frequency 3/13006
Freq. EA 0/8600
Freq. AA 3/4406
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.543-5C>T r.spl? p.?
BGLAP NM_199173.4 ?/? c.104-5C>T r.spl? p.?