Genomic variant #0000839942

Chromosome 8
DNA change (genomic) (Relative to hg19 / GRCh37) g.55371749C>A
Reference Copied from the Exome Variant Server
DB-ID SOX17_000008
Frequency 1/12398
Freq. EA 1/8206
Freq. AA 0/4192
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SOX17 NM_022454.3 ?/? c.439C>A r.(=) p.(=)