{{Rsnum
|rsid=2273697
|Gene=ABCC2
|Chromosome=10
|position=101563815
|Orientation=plus
|GMAF=0.1736
|Assembly=GRCh37
|GenomeBuild=37.1
|dbSNPBuild=131
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}
{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 5.3 | 38.1 | 56.6
| HCB | 2.2 | 16.8 | 81.0
| JPT | 0.9 | 23.0 | 76.1
| YRI | 4.1 | 36.1 | 59.9
| ASW | 3.5 | 19.3 | 77.2
| CHB | 2.2 | 16.8 | 81.0
| CHD | 1.8 | 18.3 | 79.8
| GIH | 11.9 | 34.7 | 53.5
| LWK | 2.7 | 33.6 | 63.6
| MEX | 1.7 | 20.7 | 77.6
| MKK | 7.7 | 29.5 | 62.8
| TSI | 7.8 | 25.5 | 66.7
| HapMapRevision=28
}}

[[rs2273697]], also known as c1249G>A or p.V471I, is a nonsynonymous polymorphism in the [[ABCC2]] gene.

From an initial case-control study of 146 patients with [[epilepsy]], followed by replication (p=0.001) in another 279 patients, the [[rs2273697]](A) allele was associated with neurological adverse drug reactions from taking [[carbamazepine]]. Functional studies showed that this SNP selectively reduced carbamazepine transport across the cell membrane.{{PMID|20216337}}

{{PharmGKB
|RSID=rs2273697
|Name_s=ABCC2: c.1249G>A; p.V417I
|Gene_s=ABCC2
|Feature=Exon/NonSyn
|Evidence=PubMed ID:20216337
|Annotation=Risk or phenotype-associated allele: A. Phenotype: This SNP showed a strong association with the neurological adverse drug reaction caused (ADR) by carbamazepine (P=0.005). The study results indicate that the c.1249A variant is an independent risk factor of carbamazepine CNS ADR. Study size: 146 patients with epilepsy who had been prescribed carbamazepine. Study population: Korean.
|Drugs=carbamazepine
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA165291729
}}

{{PharmGKB
|RSID=rs2273697
|Name_s=ABCC2:1249G>A
|Gene_s=ABCC2
|Feature=Exon/NonSyn
|Evidence=PubMed ID:17083032
|Annotation=Common variant, mostly found to have no association, but there was one exception.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA161145027
}}

{{PharmGKB
|RSID=rs2273697
|Name_s=ABCC2:c.1249G>A, ABCC2:V417I
|Gene_s=ABCC2
|Feature=Exon/NonSyn
|Evidence=PubMed ID:18334920
|Annotation=The A allele of this variant is associated in a gene dose dependent manner with the following phenotypes: 1) increased residual clearance of intravenous talinolol and 2) lower bioavailablilty of orally administered talinolol in healthy German subjects. However, this variant is not associated with alterations in intestinal ABCC2 mRNA or protein levels.
|Drugs=talinolol
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA162098942
}}

{{PMID Auto
|PMID=22630058
|Title=ABCC2 Polymorphisms and Haplotype are Associated with Drug Resistance in Chinese Epileptic Patients
}}

{{PMID Auto
|PMID=16385451
|Title=A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
|OA=1
}}

{{PMID Auto
|PMID=18176959
|Title=Increased susceptibility for intrahepatic cholestasis of pregnancy and contraceptive-induced cholestasis in carriers of the 1331T>C polymorphism in the bile salt export pump.
|OA=1
}}

{{PMID Auto
|PMID=18395921
|Title=Role of ABCC2 common variants in intrahepatic cholestasis of pregnancy.
|OA=1
}}

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

{{PMID Auto
|PMID=18817904
|Title=Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: effects on population-based association studies.
|OA=1
}}

{{PMID Auto
|PMID=19568750
|Title=MRP2 and GSTP1 polymorphisms and chemotherapy response in advanced non-small cell lung cancer.
|OA=1
}}

{{PMID Auto
|PMID=22112610
|Title=Common variants in ABCB1, ABCC2 and ABCG2 genes and clinical outcomes among women with advanced stage ovarian cancer treated with platinum and taxane-based chemotherapy: a Gynecologic Oncology Group study.
|OA=1
}}

{{PMID Auto
|PMID=22318656
|Title=Interindividual variability in hepatic expression of the multidrug resistance-associated protein 2 (MRP2/ABCC2): quantification by liquid chromatography/tandem mass spectrometry.
|OA=1
}}

{{GET Evidence
|gene=ABCC2
|aa_change=Val417Ile
|aa_change_short=V417I
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2273697
|overall_frequency_n=2069
|overall_frequency_d=10758
|overall_frequency=0.192322
|n_genomes=13
|n_genomes_annotated=0
|n_haplomes=15
|n_articles=3
|n_articles_annotated=3
|gene_in_genetests=Y
|in_pharmgkb=Y
|pph2_score=0.001
|genetests_testable=Y
|nblosum100=-4
|autoscore=3
|webscore=N
|n_web_uneval=10
|summary_short=Associated with increased activity of the intestinal efflux transporter ABCC2, evidenced by gene-dose related decrease of oral absorption and increased residual clearance of talinolol.
}}

{{PMID Auto
|PMID=23506516
|Title=A systematic review and meta-analysis of the role of ABCC2 variants on drug response in patients with epilepsy
}}

{{PMID Auto
|PMID=23069858
|Title=Impact of ABCC2 polymorphisms on high-dose methotrexate pharmacokinetics in patients with lymphoid malignancy.
}}

{{PMID Auto
|PMID=23896815
|Title=Influence of ATP-binding cassette polymorphisms on neurological outcome after traumatic brain injury
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}