{{Rsnum
|rsid=1042605
|Gene=UGT1A8
|Chromosome=2
|position=233618472
|Orientation=plus
|GMAF=0.124
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=UGT1A8
}}{{PharmGKB
|RSID=rs1042605
|Name_s=UGT1A8: UGT1A8*1, reference allele, defined as: 173Ala, 255Thr, 277Cys; other definition see PMID: 9535849)
|Gene_s=UGT1A8
|Feature=Exon/Syn
|Evidence=PubMed ID:12042666
|Annotation=Risk or phenotype-associated allele: UGT1A8*1 (reference allele defined as: 173Ala, 255Thr, 277Cys; other definition see PMID: 9535849). Phenotype: In vitro catalytic activity and protein expression. Genetic analysis of UGT1A8 (exclusively expressed in extrahepatic tissue) in 69 individuals identified four alleles, of which the reference allele, UGT1A8*1, showed the greatest prevalence (0.55 allele frequency, 39% *1/*1 diplotype, in 71% of all diplotypes) in the population studied, and was defined as having 173Ala, 255Thr, 277Cys. In vitro studies in HEK293 cells show UGT1A8*1 has little impact on function and protein expression. Study size: 69. Study population/ethnicity: Lung cancer patients and family members and other volunteers who served as controls. Type of association: GN; FA
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA165109780
}}

{{PharmGKB
|RSID=rs1042605
|Name_s=UGT1A8: UGT1A8*1, reference allele, defined as: 173Ala, 255Thr, 277Cys; other definition see PMID: 9535849.
|Gene_s=UGT1A8
|Feature=Exon/Syn
|Evidence=PubMed ID:12042666
|Annotation=Risk or phenotype-associated allele: UGT1A8*1a (defining allele: synonymous c.765A>G). Phenotype: In vitro catalytic activity and protein expression. Genetic analysis of UGT1A8 (exclusively expressed in extrahepatic tissue) in 69 individuals identified four alleles, of which UGT1A8*1a was defined as a 765A>G base change with no amino acid change at residue 277. Study size: 69. Study population/ethnicity: Lung cancer patients and family members and other volunteers who served as controls. Type of association: GN; FA
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA165109782
}}{{GET Evidence
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1042605
|overall_frequency_n=1876
|overall_frequency_d=10758
|overall_frequency=0.174382
|n_genomes=18
|n_genomes_annotated=0
|n_haplomes=20
|n_articles=1
|n_articles_annotated=0
|in_pharmgkb=Y
|autoscore=1
|webscore=N
}}