Genomic variant #0001346570

Chromosome 14
DNA change (genomic) (Relative to hg19 / GRCh37) g.88450770G>A
Reference Copied from the Exome Variant Server
DB-ID GALC_000116
Frequency 507/12128
Freq. EA 463/8260
Freq. AA 44/3868
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
GALC NM_000153.3 ?/? c.550C>T r.(?) p.(Arg184Cys)