Genomic variant #0000140723

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.162469853G>A
Reference Copied from the Exome Variant Server
DB-ID UHMK1_000012
Frequency 7/13006
Freq. EA 7/8600
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
UHMK1 NM_175866.4 ?/? c.377G>A r.(?) p.(Ser126Asn)