Genomic variant #0000140751

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.162482538A>C
Reference Copied from the Exome Variant Server
DB-ID UHMK1_000040
Frequency 1/13006
Freq. EA 0/8600
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
UHMK1 NM_175866.4 ?/? c.949A>C r.(?) p.(Met317Leu)