Genomic variant #0000158268

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.193150329_193150330insA
Reference Copied from the Exome Variant Server
DB-ID B3GALT2_000021
Frequency 1/12514
Freq. EA 0/8248
Freq. AA 1/4266
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
B3GALT2 NM_003783.3 ?/? c.363_364insT r.(?) p.(Ile122Tyrfs*4)
CDC73 NM_024529.4 ?/? c.973-22596_973-22595insA r.(?) p.(Ile122Tyrfs*4)