Genomic variant #0001954833

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.16672598A>C
Reference Copied from the Exome Variant Server
DB-ID CTPS2_000031
Frequency 3/10563
Freq. EA 0/6728
Freq. AA 3/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
S100G NM_004057.2 ?/? c.206A>C r.(?) p.(Glu69Ala)
CTPS2 NM_019857.3 ?/? c.1296+13039T>G r.(?) p.(Glu69Ala)