Genomic variant #0001587974

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.38976888C>T
Reference Copied from the Exome Variant Server
DB-ID KRT10_000057
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     
KRT10 NM_000421.3 ?/? c.742G>A r.(?) p.(Val248Met)
TMEM99 NM_145274.3 ?/? c.-221+1428C>T r.(?) p.(Val248Met)