Genomic variant #0000158249

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.193149521A>G
Reference Copied from the Exome Variant Server
DB-ID B3GALT2_000012
Frequency 3/13006
Freq. EA 2/8600
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
B3GALT2 NM_003783.3 ?/? c.1172T>C r.(?) p.(Ile391Thr)
CDC73 NM_024529.4 ?/? c.973-23404A>G r.(?) p.(Ile391Thr)