Variant #0000002662 (NC_000002.12:g.233760498G>A, UGT1A1(NM_000463.2):c.211G>A)

Individual ID 00000596
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.233760498G>A
Published as -
Reference Sin Shwe et al.(2020)(http://iosrjournals.org/iosr-jdms/papers/Vol19-issue5/Series-1/J1905014449.pdf)
DB-ID UGT1A1_000001 See all 4 reported entries
dbSNP ID rs4148323
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
UGT1A1 NM_000463.2 +/. - c.211G>A - r.(?) p.(Gly71Arg) -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000662 DNA PCR UGT1A1 1 Nur Aisyah Athirah