Genomic variant #0001954832

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.16672525C>T
Reference Copied from the Exome Variant Server
DB-ID CTPS2_000030
Frequency 1/10563
Freq. EA 1/6728
Freq. AA 0/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
S100G NM_004057.2 ?/? c.136-3C>T r.spl? p.?
CTPS2 NM_019857.3 ?/? c.1296+13112G>A r.(=) p.(=)