Genomic variant #0000140761

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.162488001T>C
Reference Copied from the Exome Variant Server
DB-ID UHMK1_000050
Frequency 36/13002
Freq. EA 0/8596
Freq. AA 36/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
UHMK1 NM_175866.4 ?/? c.1113+21T>C r.(=) p.(=)