Variant #0000005128 (NC_000019.9:g.1811603C>T, ATP8B3(NM_138813.3):c.133G>A)

Individual ID 00005134
Chromosome 19
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.1811603C>T
Reference VĂ©lez JI et al. (2016)dbSNP
DB-ID ATP8B3_000001
Frequency -
Average frequency (gnomAD v.2.1.1) 0.34663 View details
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP8B3 NM_138813.3 ./. 2 c.133G>A r.(?) p.(Gly45Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005137 ? ? ATP8B3 1 XY Liu