Genomic variant #0000162247

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.201063025G>C
Reference Copied from the Exome Variant Server
DB-ID CACNA1S_000459
Frequency 36/13006
Freq. EA 0/8600
Freq. AA 36/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CACNA1S NM_000069.2 ?/? c.383C>G r.(?) p.(Thr128Ser)