{{Rsnum
|rsid=2306283
|Gene=SLCO1B1
|Chromosome=12
|position=21176804
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.405
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=SLCO1B1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 16.8 | 46.9 | 36.3
| HCB | 64.2 | 31.4 | 4.4
| JPT | 41.6 | 47.8 | 10.6
| YRI | 66.7 | 30.6 | 2.7
| ASW | 63.2 | 31.6 | 5.3
| CHB | 64.2 | 31.4 | 4.4
| CHD | 52.3 | 41.3 | 6.4
| GIH | 28.7 | 51.5 | 19.8
| LWK | 68.8 | 27.5 | 3.7
| MEX | 10.3 | 50.0 | 39.7
| MKK | 68.6 | 26.3 | 5.1
| TSI | 11.8 | 57.8 | 30.4
| HapMapRevision=28
}}
[[rs2306283]] (Asn130Asp/N130D, A388G/388A>G) is a SNP within [[SLCO1B1]] (Solute carrier organic anion transporter family member 1B1). A G at this location denotes the SLCO1B1*1B allele.

{{PMID|18854776}} among 8 healthy volunteers with *1B/*1B genotypes and 16 with the *1A/*1A genotype, *1B/*1B genotype associated with reduced plasma concentrations of [[repaglinide]] (but not nateglinide) consistent with increased hepatic uptake by [[SLCO1B1]] (but w/ limited effects on nateglinide pharmacokinetics)

[http://www.genomeweb.com/issues/news/148953-1.html?CMP=OTC-RSS news] rs2306283 influences [[statin]]-related myopathy risk

{{PharmGKB
|RSID=rs2306283
|Name_s=SLCO1B1: N130D
|Gene_s=SLCO1B1
|Feature=Exon/NonSyn
|Evidence=PubMed ID:19940846
|Annotation=Approximately 50% of the variation in absolute neutrophil count nadir in cancer patients is explained by rs3765129, rs2306283 and UGT1a1*93; the AUCs of irinotecan, SN-38, SN-38 glucuronide, and APC are influenced by rs3740066, rs2306283, rs35605, rs10276036, and rs717620 .
|Drugs=
|Drug Classes=
|Diseases=Neoplasms
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA165111615
}}

{{PharmGKB
|RSID=rs2306283
|Name_s=SLCO1B1:N130D
|Gene_s=SLCO1B1
|Feature=Exon/NonSyn
|Evidence=Web Resource:http://www.pharmgkb.org/search/annotatedGene/slco1b1/variant.jsp#ImportantVariantInformationforSLCO1B1-N130D
|Annotation=Associated with decreased pravastatin plasma AUC.
|Drugs=pravastatin
|Drug Classes=
|Diseases=
|Curation Level=In-Depth
|PharmGKB Accession ID=PA161145158
}}

{{PharmGKB
|RSID=rs2306283
|Name_s=SLC01B1*1B, SLCO1B1:N130D
|Gene_s=SLCO1B1
|Feature=Exon/NonSyn
|Evidence=PubMed ID:18854776
|Annotation=Homozygosity for the G allele of this SNP was associated with reduced plasma concentrations of repaglinide, but not nateglinide, in healthy volunteers dosed separately with each of these drugs.
|Drugs=nateglinide; repaglinide
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA162361064
}}

{{PharmGKB
|RSID=rs2306283
|Name_s=SLCO1B1:388A>G. SLCO1B1:*1b
|Gene_s=SLCO1B1
|Feature=Exon/NonSyn
|Evidence=PubMed ID:11477075; PubMed ID:15116054; PubMed ID:19387419
|Annotation=Variant with G allele showed mixed results: NO change in in vitro transport of estrone sulfate but decreased plasma AUC of pravastatin, endogenous bile acids
|Drugs=pravastatin
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA164891478
}}

{{PharmGKB
|RSID=rs2306283
|Name_s=SCLO1B1: SLCO1B1*15 defined by rs2306283 Asn130Asp (338A>G) and rs4149056 Val174Ala (521T>C)
|Gene_s=SLCO1B1
|Feature=Exon/NonSyn
|Evidence=PubMed ID:19890249
|Annotation=Risk or phenotype-associated allele: SLCO1B1*15 defined by rs2306283 Asn130Asp (338A>G) and rs4149056 Val174Ala (521T>C). Phenotype: SLCO1B1*15 allele was associated with higher mycophenolic acid (MPA) AUC(0-12 hours) (p = 0.0246) and lower ratio of MPAG (MPA glucuronide)/MPA (p = 0.0267), but no association with MPAG AUC(0-9 h). Study size: 70. Study population/ethnicity: Caucasian cohort from the SOPHIE study cotreated with mycophenylate mofetil (MMF) and either sirolimus or tacrolimus. Significance metric(s): p < 0.03. Type of association: GN; PK
|Drugs=mycophenolate mofetil; mycophenolic acid; sirolimus; tacrolimus
|Drug Classes=
|Diseases=Organ Transplantation
|Curation Level=Curated
|PharmGKB Accession ID=PA165109802
}}

{{PMID Auto
|PMID=21630030
|Title=Frequency of the SLCO1B1 388A&gt;G and the 521T&gt;C polymorphism in Tanzania genotyped by a new LightCycler®-based method
}}

{{PMID Auto
|PMID=22189199
|Title=Genetic variation at the SLCO1B1 gene locus and low density lipoprotein cholesterol lowering response to pravastatin in the elderly
}}

{{PMID Auto
|PMID=22808112
|Title=Liver Enzyme Abnormalities and Associated Risk Factors in HIV Patients on Efavirenz-Based HAART with or without Tuberculosis Co-Infection in Tanzania
|OA=1
}}

{{PMID|18547414|OA=1
}} Genotyping panel for assessing response to cancer chemotherapy.

{{PMID|19419973|OA=1
}} Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.

{{PMID|20389299|OA=1
}} Pazopanib-induced hyperbilirubinemia is associated with Gilbert's syndrome UGT1A1 polymorphism.

{{PMID|21178985|OA=1
}} Common nonsynonymous substitutions in SLCO1B1 predispose to statin intolerance in routinely treated individuals with type 2 diabetes: a go-DARTS study.

{{PMID|21892003}} Single nucleotide polymorphisms of ABCC5 and ABCG1 transporter genes correlate to irinotecan-associated gastrointestinal toxicity in colorectal cancer patients: a DMET microarray profiling study.

{{PMID|21928084}} SLCO1B1 haplotypes are not associated with atorvastatin-induced myalgia in Brazilian patients with familial hypercholesterolemia.

{{PMID|22136368}} Influence of genomic ancestry on the distribution of SLCO1B1, SLCO1B3 and ABCB1 gene polymorphisms among Brazilians.

{{PMID|22580719}} UGT1A1, SLCO1B1, and SLCO1B3 polymorphisms versus neonatal hyperbilirubinemia: is there an association?

{{GET Evidence
|gene=SLCO1B1
|aa_change=Asn130Asp
|aa_change_short=N130D
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2306283
|overall_frequency_n=5659
|overall_frequency_d=10722
|overall_frequency=0.527793
|n_genomes=47
|n_genomes_annotated=0
|n_haplomes=69
|n_articles=3
|n_articles_annotated=3
|in_pharmgkb=Y
|nblosum100=-1
|autoscore=1
|webscore=N
|summary_short=Low plasma AUC but no change in in-vitro transport with pravastatin.
}}

{{PMID Auto
|PMID=22562052
|Title=SLCO1B1 *15 haplotype is associated with rifampin-induced liver injury.
}}

{{PMID Auto
|PMID=23100282
|Title=Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study.
|OA=1
}}

{{PMID Auto
|PMID=23133420
|Title=Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin.
|OA=1
}}

{{PMID Auto
|PMID=23471819
|Title=Direct and rapid genotyping of SLCO1B1 388A>G and 521T>C in human blood specimens using the SmartAmp-2 method.
|OA=1
}}

{{PMID Auto
|PMID=23480028
|Title=Fentanyl pharmacokinetics is not dependent on hepatic uptake by organic anion-transporting polypeptide 1B1 in human beings.
}}

{{PMID Auto
|PMID=24865931
|Title=Combined effects of the UGT1A1 and OATP2 gene polymorphisms as major risk factor for unconjugated hyperbilirubinemia in Indian neonates
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}