Genomic variant #0001592108

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.40123982T>C
Reference Copied from the Exome Variant Server
DB-ID CNP_000032
Frequency 1/12248
Freq. EA 0/8296
Freq. AA 1/3952
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CNP NM_033133.4 ?/? c.749T>C r.(?) p.(Leu250Pro)