Genomic variant #0000140716

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.162467843C>T
Reference Copied from the Exome Variant Server
DB-ID UHMK1_000005
Frequency 2/12674
Freq. EA 2/8432
Freq. AA 0/4242
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
UHMK1 NM_175866.4 ?/? c.53C>T r.(?) p.(Ala18Val)