Genomic variant #0000581427

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.138209301C>A
Reference Copied from the Exome Variant Server
DB-ID CTNNA1_000074
Frequency 2/12294
Freq. EA 1/8306
Freq. AA 1/3988
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CTNNA1 NM_001903.2 ?/? c.1063-12600C>A r.(?) p.(Ala317Ser)
LRRTM2 NM_015564.2 ?/? c.949G>T r.(?) p.(Ala317Ser)