Genomic variant #0000158254

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.193149803T>C
Reference Copied from the Exome Variant Server
DB-ID B3GALT2_000022
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     
B3GALT2 NM_003783.3 ?/? c.890A>G r.(?) p.(Tyr297Cys)
CDC73 NM_024529.4 ?/? c.973-23122T>C r.(?) p.(Tyr297Cys)