Genomic variant #0000162218

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.201058513C>T
Reference Copied from the Exome Variant Server
DB-ID CACNA1S_000427
Frequency 101/13004
Freq. EA 95/8598
Freq. AA 6/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CACNA1S NM_000069.2 ?/? c.773G>A r.(?) p.(Gly258Asp)