Genomic variant #0000855685

Chromosome 8
DNA change (genomic) (Relative to hg19 / GRCh37) g.104153261C>G
Reference Copied from the Exome Variant Server
DB-ID BAALC_000005
Frequency 10/10906
Freq. EA 0/7230
Freq. AA 10/3676
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
BAALC NM_001024372.1 ?/? c.136C>G r.(?) p.(Pro46Ala)