Genomic variant #0000839950

Chromosome 8
DNA change (genomic) (Relative to hg19 / GRCh37) g.55372302G>T
Reference Copied from the Exome Variant Server
DB-ID SOX17_000016
Frequency 1/12744
Freq. EA 1/8452
Freq. AA 0/4292
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SOX17 NM_022454.3 ?/? c.992G>T r.(?) p.(Gly331Val)