Genomic variant #0001592096

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.40120735C>T
Reference Copied from the Exome Variant Server
DB-ID CNP_000020
Frequency 2/12298
Freq. EA 1/8334
Freq. AA 1/3964
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CNP NM_033133.4 ?/? c.653C>T r.(?) p.(Ala218Val)