Genomic variant #0000158259

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.193149972A>G
Reference Copied from the Exome Variant Server
DB-ID B3GALT2_000031
Frequency 3/13004
Freq. EA 3/8598
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
B3GALT2 NM_003783.3 ?/? c.721T>C r.(?) p.(Tyr241His)
CDC73 NM_024529.4 ?/? c.973-22953A>G r.(?) p.(Tyr241His)