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dbSNP Short Genetic Variations

Reference SNP (rs) Report

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This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs3740066

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chr10:99844450 (GRCh38.p7) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.34095 (83796/245774, GnomAD)
T=0.32288 (40543/125568, TOPMED)
T=0.3248 (10038/30906, GnomAD) (+ 4 more)
T=0.3335 (4338/13006, GO-ESP)
T=0.288 (1443/5008, 1000G)
T=0.369 (1424/3854, ALSPAC)
T=0.383 (1422/3708, TWINSUK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ABCC2 : Missense Variant
Publications
41 citations
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p7 chr 10 NC_000010.11:g.99844450C>G
GRCh38.p7 chr 10 NC_000010.11:g.99844450C>T
GRCh37.p13 chr 10 NC_000010.10:g.101604207C>G
GRCh37.p13 chr 10 NC_000010.10:g.101604207C>T
ABCC2 RefSeqGene NG_011798.1:g.66745C>G
ABCC2 RefSeqGene NG_011798.1:g.66745C>T
Gene: ABCC2, ATP binding cassette subfamily C member 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ABCC2 transcript NM_000392.4:c.397...

NM_000392.4:c.3972C>G

I [ATC] > M [ATG] Coding Sequence Variant
canalicular multispecific organic anion transporter 1 NP_000383.1:p.Ile...

NP_000383.1:p.Ile1324Met

I (Ile) > M (Met) Missense Variant
ABCC2 transcript NM_000392.4:c.397...

NM_000392.4:c.3972C>T

I [ATC] > I [ATT] Coding Sequence Variant
canalicular multispecific organic anion transporter 1 NP_000383.1:p.Ile...

NP_000383.1:p.Ile1324=

I (Ile) > I (Ile) Synonymous Variant
ABCC2 transcript variant X5 XM_006717631.3:c. N/A Genic Downstream Transcript Variant
ABCC2 transcript variant X4 XM_011539291.2:c. N/A Genic Downstream Transcript Variant
ABCC2 transcript variant X6 XM_017015675.1:c. N/A Genic Downstream Transcript Variant
ABCC2 transcript variant X2 XM_006717630.3:c....

XM_006717630.3:c.3276C>G

I [ATC] > M [ATG] Coding Sequence Variant
canalicular multispecific organic anion transporter 1 isoform X1 XP_006717693.1:p....

XP_006717693.1:p.Ile1092Met

I (Ile) > M (Met) Missense Variant
ABCC2 transcript variant X2 XM_006717630.3:c....

XM_006717630.3:c.3276C>T

I [ATC] > I [ATT] Coding Sequence Variant
canalicular multispecific organic anion transporter 1 isoform X1 XP_006717693.1:p....

XP_006717693.1:p.Ile1092=

I (Ile) > I (Ile) Synonymous Variant
ABCC2 transcript variant X1 XR_945604.2:n.419...

XR_945604.2:n.4194C>G

N/A Non Coding Transcript Variant
ABCC2 transcript variant X1 XR_945604.2:n.419...

XR_945604.2:n.4194C>T

N/A Non Coding Transcript Variant
ABCC2 transcript variant X3 XR_945605.2:n.406...

XR_945605.2:n.4068C>G

N/A Non Coding Transcript Variant
ABCC2 transcript variant X3 XR_945605.2:n.406...

XR_945605.2:n.4068C>T

N/A Non Coding Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: T (allele ID: 193262 )
ClinVar Accession Disease Names Clinical Significance
RCV000176843.2 not specified Benign
RCV000396735.1 Dubin-Johnson syndrome Benign
Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
The Genome Aggregation Database Global Study-wide 245774 C=0.65903 G=0.00002, T=0.34095
The Genome Aggregation Database European Sub 133532 C=0.63442 G=0.00004, T=0.36555
The Genome Aggregation Database Asian Sub 48026 C=0.7078 G=0.0000, T=0.2922
The Genome Aggregation Database American Sub 33578 C=0.6510 G=0.0000, T=0.3490
The Genome Aggregation Database African Sub 15304 C=0.7435 G=0.0000, T=0.2565
The Genome Aggregation Database Ashkenazi Jewish Sub 9850 C=0.655 G=0.000, T=0.345
The Genome Aggregation Database Other Sub 5484 C=0.651 G=0.000, T=0.349
Trans-Omics for Precision Medicine Global Study-wide 125568 C=0.67712 T=0.32288
The Genome Aggregation Database Global Study-wide 30906 C=0.6751 T=0.3248, G=0.0001
The Genome Aggregation Database European Sub 18456 C=0.6381 T=0.3618, G=0.0001
The Genome Aggregation Database African Sub 8712 C=0.736 T=0.264, G=0.000
The Genome Aggregation Database East Asian Sub 1620 C=0.786 T=0.214, G=0.000
The Genome Aggregation Database Other Sub 978 C=0.67 T=0.33, G=0.00
The Genome Aggregation Database American Sub 838 C=0.65 T=0.35, G=0.00
The Genome Aggregation Database Ashkenazi Jewish Sub 302 C=0.66 T=0.34, G=0.00
GO Exome Sequencing Project Global Study-wide 13006 C=0.6665 T=0.3335
GO Exome Sequencing Project European American Sub 8600 C=0.629 T=0.371
GO Exome Sequencing Project African American Sub 4406 C=0.740 T=0.260
1000Genomes Global Study-wide 5008 C=0.712 T=0.288
1000Genomes African Sub 1322 C=0.784 T=0.216
1000Genomes East Asian Sub 1008 C=0.753 T=0.247
1000Genomes Europe Sub 1006 C=0.629 T=0.371
1000Genomes South Asian Sub 978 C=0.70 T=0.30
1000Genomes American Sub 694 C=0.66 T=0.34
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.631 T=0.369
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.617 T=0.383
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement C= G T Note
GRCh38.p7 chr 10 NC_000010.11:g.99...

NC_000010.11:g.99844450C=

NC_000010.11:g.99...

NC_000010.11:g.99844450C>G

NC_000010.11:g.99...

NC_000010.11:g.99844450C>T

GRCh37.p13 chr 10 NC_000010.10:g.10...

NC_000010.10:g.101604207C=

NC_000010.10:g.10...

NC_000010.10:g.101604207C>G

NC_000010.10:g.10...

NC_000010.10:g.101604207C>T

ABCC2 RefSeqGene NG_011798.1:g.667...

NG_011798.1:g.66745C=

NG_011798.1:g.667...

NG_011798.1:g.66745C>G

NG_011798.1:g.667...

NG_011798.1:g.66745C>T

ABCC2 transcript NM_000392.4:c.3972C= NM_000392.4:c.397...

NM_000392.4:c.3972C>G

NM_000392.4:c.397...

NM_000392.4:c.3972C>T

ABCC2 transcript NM_000392.3:c.3972C= NM_000392.3:c.397...

NM_000392.3:c.3972C>G

NM_000392.3:c.397...

NM_000392.3:c.3972C>T

ABCC2 transcript variant X2 XM_006717630.3:c....

XM_006717630.3:c.3276C=

XM_006717630.3:c....

XM_006717630.3:c.3276C>G

XM_006717630.3:c....

XM_006717630.3:c.3276C>T

ABCC2 transcript variant X3 XR_945605.2:n.4068C= XR_945605.2:n.406...

XR_945605.2:n.4068C>G

XR_945605.2:n.406...

XR_945605.2:n.4068C>T

ABCC2 transcript variant X1 XR_945604.2:n.4194C= XR_945604.2:n.419...

XR_945604.2:n.4194C>G

XR_945604.2:n.419...

XR_945604.2:n.4194C>T

canalicular multispecific organic anion transporter 1 NP_000383.1:p.Ile...

NP_000383.1:p.Ile1324=

NP_000383.1:p.Ile...

NP_000383.1:p.Ile1324Met

NP_000383.1:p.Ile...

NP_000383.1:p.Ile1324=

canalicular multispecific organic anion transporter 1 isoform X1 XP_006717693.1:p....

XP_006717693.1:p.Ile1092=

XP_006717693.1:p....

XP_006717693.1:p.Ile1092Met

XP_006717693.1:p....

XP_006717693.1:p.Ile1092=

Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

2 ClinVar, 7 Frequency, 89 SubSNP submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss4926069 Aug 28, 2002 (107)
2 RIKENSNPRC ss5602242 Dec 12, 2002 (110)
3 WI_SSAHASNP ss12115400 Jul 11, 2003 (116)
4 CSHL-HAPMAP ss17410096 Feb 27, 2004 (120)
5 CSHL-HAPMAP ss19188327 Feb 27, 2004 (120)
6 SSAHASNP ss20711112 Apr 05, 2004 (123)
7 ABI ss38531621 Mar 11, 2006 (126)
8 PERLEGEN ss46548575 Mar 11, 2006 (126)
9 SNP500CANCER ss48292395 Mar 11, 2006 (126)
10 APPLERA_GI ss48416858 Mar 11, 2006 (126)
11 ILLUMINA ss65742500 Oct 15, 2006 (127)
12 PHARMGKB_PMT ss69365169 May 17, 2007 (127)
13 PHARMGKB_CREATE ss69366741 May 17, 2007 (127)
14 CGM_KYOTO ss76874754 Dec 06, 2007 (129)
15 HGSV ss77125893 Dec 06, 2007 (129)
16 HGSV ss81068113 Dec 15, 2007 (130)
17 CNG ss86353143 Mar 23, 2008 (129)
18 BCMHGSC_JDW ss88330818 Mar 23, 2008 (129)
19 HUMANGENOME_JCVI ss97578910 Feb 05, 2009 (130)
20 BGI ss102905808 Dec 01, 2009 (131)
21 1000GENOMES ss109695454 Jan 24, 2009 (130)
22 1000GENOMES ss113721787 Jan 25, 2009 (130)
23 ILLUMINA-UK ss119286463 Feb 15, 2009 (130)
24 ENSEMBL ss132039686 Dec 01, 2009 (131)
25 ENSEMBL ss138837548 Dec 01, 2009 (131)
26 GMI ss155453110 Dec 01, 2009 (131)
27 SEATTLESEQ ss159721253 Dec 01, 2009 (131)
28 COMPLETE_GENOMICS ss168710344 Jul 04, 2010 (132)
29 COMPLETE_GENOMICS ss170942355 Jul 04, 2010 (132)
30 BUSHMAN ss201927894 Jul 04, 2010 (132)
31 1000GENOMES ss224901572 Jul 14, 2010 (132)
32 1000GENOMES ss235305907 Jul 15, 2010 (132)
33 1000GENOMES ss241986543 Jul 15, 2010 (132)
34 ILLUMINA ss244296186 Jul 04, 2010 (132)
35 BL ss254564542 May 09, 2011 (134)
36 GMI ss280745529 May 04, 2012 (137)
37 PJP ss290916869 May 09, 2011 (134)
38 NHLBI-ESP ss342305815 May 09, 2011 (134)
39 ILLUMINA ss482449852 May 04, 2012 (137)
40 ILLUMINA ss483914730 May 04, 2012 (137)
41 1000GENOMES ss491002999 May 04, 2012 (137)
42 CLINSEQ_SNP ss491631022 May 04, 2012 (137)
43 ILLUMINA ss536108744 Sep 08, 2015 (146)
44 TISHKOFF ss562163774 Apr 25, 2013 (138)
45 SSMP ss657232736 Apr 25, 2013 (138)
46 ILLUMINA ss779520285 Sep 08, 2015 (146)
47 ILLUMINA ss782400984 Sep 08, 2015 (146)
48 ILLUMINA ss834990753 Sep 08, 2015 (146)
49 JMKIDD_LAB ss974475862 Aug 21, 2014 (142)
50 EVA-GONL ss987841905 Aug 21, 2014 (142)
51 PMT ss1026802396 Aug 21, 2014 (142)
52 JMKIDD_LAB ss1067515516 Aug 21, 2014 (142)
53 JMKIDD_LAB ss1077241222 Aug 21, 2014 (142)
54 1000GENOMES ss1338761642 Aug 21, 2014 (142)
55 DDI ss1426422750 Apr 01, 2015 (144)
56 EVA_GENOME_DK ss1575315571 Apr 01, 2015 (144)
57 EVA_FINRISK ss1584069876 Apr 01, 2015 (144)
58 EVA_DECODE ss1597515519 Apr 01, 2015 (144)
59 EVA_UK10K_ALSPAC ss1625270835 Apr 01, 2015 (144)
60 EVA_UK10K_TWINSUK ss1668264868 Apr 01, 2015 (144)
61 EVA_EXAC ss1690037852 Apr 01, 2015 (144)
62 EVA_EXAC ss1690037853 Apr 01, 2015 (144)
63 EVA_MGP ss1711267592 Apr 01, 2015 (144)
64 HAMMER_LAB ss1806535292 Sep 08, 2015 (146)
65 WEILL_CORNELL_DGM ss1931206526 Feb 12, 2016 (147)
66 GENOMED ss1967207829 Jul 19, 2016 (147)
67 JJLAB ss2026333160 Sep 14, 2016 (149)
68 USC_VALOUEV ss2154610516 Nov 08, 2017 (151)
69 HUMAN_LONGEVITY ss2177431691 Dec 20, 2016 (150)
70 TOPMED ss2340553178 Dec 20, 2016 (150)
71 SYSTEMSBIOZJU ss2627634778 Nov 08, 2017 (151)
72 ILLUMINA ss2632753137 Nov 08, 2017 (151)
73 ILLUMINA ss2632753138 Nov 08, 2017 (151)
74 GRF ss2698864054 Nov 08, 2017 (151)
75 ILLUMINA ss2710718356 Nov 08, 2017 (151)
76 GNOMAD ss2738460660 Nov 08, 2017 (151)
77 GNOMAD ss2748453343 Nov 08, 2017 (151)
78 GNOMAD ss2892524767 Nov 08, 2017 (151)
79 AFFY ss2984921336 Nov 08, 2017 (151)
80 AFFY ss2985569148 Nov 08, 2017 (151)
81 SWEGEN ss3007024560 Nov 08, 2017 (151)
82 EVA_SAMSUNG_MC ss3023065744 Nov 08, 2017 (151)
83 BIOINF_KMB_FNS_UNIBA ss3026956566 Nov 08, 2017 (151)
84 CSIRBIOHTS ss3029638107 Nov 08, 2017 (151)
85 TOPMED ss3128428659 Nov 08, 2017 (151)
86 TOPMED ss3128428660 Nov 08, 2017 (151)
87 CSHL ss3349277148 Nov 08, 2017 (151)
88 ILLUMINA ss3626518130 Jul 20, 2018 (151)
89 ILLUMINA ss3630776002 Jul 20, 2018 (151)
90 1000Genomes NC_000010.10 - 101604207 Jul 20, 2018 (151)
91 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 101604207 Jul 20, 2018 (151)
92 The Genome Aggregation Database NC_000010.10 - 101604207 Jul 20, 2018 (151)
93 The Genome Aggregation Database NC_000010.10 - 101604207 Jul 20, 2018 (151)
94 GO Exome Sequencing Project NC_000010.10 - 101604207 Jul 20, 2018 (151)
95 Trans-Omics for Precision Medicine NC_000010.11 - 99844450 Jul 20, 2018 (151)
96 UK 10K study - Twins NC_000010.10 - 101604207 Jul 20, 2018 (151)
97 ClinVar RCV000176843.2 Jul 20, 2018 (151)
98 ClinVar RCV000396735.1 Jul 20, 2018 (151)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs12780340 Sep 24, 2004 (123)
rs17216303 Mar 11, 2006 (126)
rs59292214 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss77125893, ss81068113 NC_000010.8:101594196:C= NC_000010.11:99844449:C= (self)
ss88330818, ss109695454, ss113721787, ss119286463, ss168710344, ss170942355, ss201927894, ss254564542, ss280745529, ss290916869, ss482449852, ss491631022, ss1597515519 NC_000010.9:101594196:C= NC_000010.11:99844449:C= (self)
51197938, 28428043, 26226288, 7475395, 1004303, 28428043, ss224901572, ss235305907, ss241986543, ss342305815, ss483914730, ss491002999, ss536108744, ss562163774, ss657232736, ss779520285, ss782400984, ss834990753, ss974475862, ss987841905, ss1026802396, ss1067515516, ss1077241222, ss1338761642, ss1426422750, ss1575315571, ss1584069876, ss1625270835, ss1668264868, ss1690037852, ss1690037853, ss1711267592, ss1806535292, ss1931206526, ss1967207829, ss2026333160, ss2154610516, ss2340553178, ss2627634778, ss2632753137, ss2632753138, ss2698864054, ss2710718356, ss2738460660, ss2748453343, ss2892524767, ss2984921336, ss2985569148, ss3007024560, ss3023065744, ss3029638107, ss3349277148, ss3626518130, ss3630776002 NC_000010.10:101604206:C= NC_000010.11:99844449:C= (self)
49904870, ss2177431691, ss3026956566, ss3128428659, ss3128428660 NC_000010.11:99844449:C= NC_000010.11:99844449:C= (self)
ss12115400 NT_030059.10:20042764:C= NC_000010.11:99844449:C= (self)
ss17410096, ss19188327, ss20711112 NT_030059.11:20352732:C= NC_000010.11:99844449:C= (self)
ss4926069, ss5602242, ss38531621, ss46548575, ss48292395, ss48416858, ss65742500, ss69365169, ss69366741, ss76874754, ss86353143, ss97578910, ss102905808, ss132039686, ss138837548, ss155453110, ss159721253, ss244296186 NT_030059.13:52408670:C= NC_000010.11:99844449:C= (self)
26226288, 7475395, ss1690037853, ss2738460660, ss2748453343, ss2892524767 NC_000010.10:101604206:C>G NC_000010.11:99844449:C>G (self)
ss3128428659 NC_000010.11:99844449:C>G NC_000010.11:99844449:C>G (self)
ss77125893, ss81068113 NC_000010.8:101594196:C>T NC_000010.11:99844449:C>T (self)
ss88330818, ss109695454, ss113721787, ss119286463, ss168710344, ss170942355, ss201927894, ss254564542, ss280745529, ss290916869, ss482449852, ss491631022, ss1597515519 NC_000010.9:101594196:C>T NC_000010.11:99844449:C>T (self)
51197938, 28428043, 26226288, 7475395, 1004303, 28428043, ss224901572, ss235305907, ss241986543, ss342305815, ss483914730, ss491002999, ss536108744, ss562163774, ss657232736, ss779520285, ss782400984, ss834990753, ss974475862, ss987841905, ss1026802396, ss1067515516, ss1077241222, ss1338761642, ss1426422750, ss1575315571, ss1584069876, ss1625270835, ss1668264868, ss1690037852, ss1711267592, ss1806535292, ss1931206526, ss1967207829, ss2026333160, ss2154610516, ss2340553178, ss2627634778, ss2632753137, ss2632753138, ss2698864054, ss2710718356, ss2738460660, ss2748453343, ss2892524767, ss2984921336, ss2985569148, ss3007024560, ss3023065744, ss3029638107, ss3349277148, ss3626518130, ss3630776002 NC_000010.10:101604206:C>T NC_000010.11:99844449:C>T (self)
RCV000176843.2, RCV000396735.1, 49904870, ss2177431691, ss3026956566, ss3128428660 NC_000010.11:99844449:C>T NC_000010.11:99844449:C>T (self)
ss12115400 NT_030059.10:20042764:C>T NC_000010.11:99844449:C>T (self)
ss17410096, ss19188327, ss20711112 NT_030059.11:20352732:C>T NC_000010.11:99844449:C>T (self)
ss4926069, ss5602242, ss38531621, ss46548575, ss48292395, ss48416858, ss65742500, ss69365169, ss69366741, ss76874754, ss86353143, ss97578910, ss102905808, ss132039686, ss138837548, ss155453110, ss159721253, ss244296186 NT_030059.13:52408670:C>T NC_000010.11:99844449:C>T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

41 citations for rs3740066
PMID Title Author Year Journal
17997497 Association of the multidrug-resistance-associated protein gene (ABCC2) variants with intrahepatic cholestasis of pregnancy. Sookoian S et al. 2008 Journal of hepatology
18395921 Role of ABCC2 common variants in intrahepatic cholestasis of pregnancy. Sookoian S et al. 2008 World journal of gastroenterology
18926681 Polymorphisms of MRP2 (ABCC2) are associated with susceptibility to nonalcoholic fatty liver disease. Sookoian S et al. 2009 The Journal of nutritional biochemistry
19442035 Pharmacogenomics of platinum-based chemotherapy in NSCLC. Hildebrandt MA et al. 2009 Expert opinion on drug metabolism & toxicology
19568750 MRP2 and GSTP1 polymorphisms and chemotherapy response in advanced non-small cell lung cancer. Sun N et al. 2010 Cancer chemotherapy and pharmacology
19940846 The pharmacogenomics of membrane transporters project: research at the interface of genomics and transporter pharmacology. Kroetz DL et al. 2010 Clinical pharmacology and therapeutics
20602618 Irinotecan pharmacogenomics. Marsh S et al. 2010 Pharmacogenomics
21072184 Flavopiridol pharmacogenetics: clinical and functional evidence for the role of SLCO1B1/OATP1B1 in flavopiridol disposition. Ni W et al. 2010 PloS one
21434840 The influence of pharmacogenetics and cofactors on clinical outcomes in kidney transplantation. Picard N et al. 2011 Expert opinion on drug metabolism & toxicology
21541183 Urinary elimination of coproporphyrins is dependent on ABCC2 polymorphisms and represents a potential biomarker of MRP2 activity in humans. Benz-de Bretagne I et al. 2011 Journal of biomedicine & biotechnology
21628669 Genetic variants of ABCC10, a novel tenofovir transporter, are associated with kidney tubular dysfunction. Pushpakom SP et al. 2011 The Journal of infectious diseases
22630058 ABCC2 polymorphisms and haplotype are associated with drug resistance in Chinese epileptic patients. Qu J et al. 2012 CNS neuroscience & therapeutics
22868256 A prospective validation pharmacogenomic study in the adjuvant setting of colorectal cancer patients treated with the 5-fluorouracil/leucovorin/oxaliplatin (FOLFOX4) regimen. Cecchin E et al. 2013 The pharmacogenomics journal
23052037 Polymorphisms in genes encoding potential mercury transporters and urine mercury concentrations in populations exposed to mercury vapor from gold mining. Engström K et al. 2013 Environmental health perspectives
23056078 Gene polymorphisms of ABC transporters are associated with clinical outcomes in children with acute lymphoblastic leukemia. Zhai X et al. 2012 Archives of medical science
23252947 Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy. Puranik YG et al. 2013 Pharmacogenomics
23506516 A systematic review and meta-analysis of the role of ABCC2 variants on drug response in patients with epilepsy. Grover S et al. 2013 Epilepsia
23633119 Multidrug resistance-associated protein 2 (MRP2/ABCC2) haplotypes significantly affect the pharmacokinetics of tacrolimus in kidney transplant recipients. Ogasawara K et al. 2013 Clinical pharmacokinetics
23940561 Polymorphism of ORM1 is associated with the pharmacokinetics of telmisartan. Chen WQ et al. 2013 PloS one
24732756 Selected ABCB1, ABCB4 and ABCC2 polymorphisms do not enhance the risk of drug-induced hepatotoxicity in a Spanish cohort. Ulzurrun E et al. 2014 PloS one
24889212 Systematic review: interactions between aspirin, and other nonsteroidal anti-inflammatory drugs, and polymorphisms in relation to colorectal cancer. Andersen V et al. 2014 Alimentary pharmacology & therapeutics
24944790 Screening for 392 polymorphisms in 141 pharmacogenes. Kim JY et al. 2014 Biomedical reports
25110414 Pharmacogenetics research on chemotherapy resistance in colorectal cancer over the last 20 years. Panczyk M et al. 2014 World journal of gastroenterology
25132748 FOLFOX/FOLFIRI pharmacogenetics: the call for a personalized approach in colorectal cancer therapy. Mohelnikova-Duchonova B et al. 2014 World journal of gastroenterology
25155932 ABCC3 and OCT1 genotypes influence pharmacokinetics of morphine in children. Venkatasubramanian R et al. 2014 Pharmacogenomics
25346718 MDR-1 and MRP2 Gene Polymorphisms in Mexican Epileptic Pediatric Patients with Complex Partial Seizures. Escalante-Santiago D et al. 2014 Frontiers in neurology
25426075 The role of drug transporters in the kidney: lessons from tenofovir. Moss DM et al. 2014 Frontiers in pharmacology
25491747 Interactions between meat intake and genetic variation in relation to colorectal cancer. Andersen V et al. 2015 Genes & nutrition
25554586 Report of new haplotype for ABCC2 gene: rs17222723 and rs8187718 in cis. Pratt VM et al. 2015 The Journal of molecular diagnostics
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
26307985 Impact of Single Nucleotide Polymorphisms (SNPs) on Immunosuppressive Therapy in Lung Transplantation. Ruiz J et al. 2015 International journal of molecular sciences
26369774 Impact of New Genomic Technologies on Understanding Adverse Drug Reactions. Maggo SD et al. 2016 Clinical pharmacokinetics
26785747 Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan. Iskakova AN et al. 2016 BMC genetics
26858644 Cross-Comparison of Exome Analysis, Next-Generation Sequencing of Amplicons, and the iPLEX(®) ADME PGx Panel for Pharmacogenomic Profiling. Chua EW et al. 2016 Frontiers in pharmacology
27110117 Clinically relevant genetic variants of drug-metabolizing enzyme and transporter genes detected in Thai children and adolescents with autism spectrum disorder. Medhasi S et al. 2016 Neuropsychiatric disease and treatment
27180762 Vincristine pharmacokinetics pathway and neurotoxicity during early phases of treatment in pediatric acute lymphoblastic leukemia. Lopez-Lopez E et al. 2016 Pharmacogenomics
27437086 Allele Frequencies of the Single Nucleotide Polymorphisms Related to the Body Burden of Heavy Metals in the Korean Population and Their Ethnic Differences. Eom SY et al. 2016 Toxicological research
27590272 Associations of genetic polymorphisms of the transporters organic cation transporter 2 (OCT2), multidrug and toxin extrusion 1 (MATE1), and ATP-binding cassette subfamily C member 2 (ABCC2) with platinum-based chemotherapy response and toxicity in non-small cell lung cancer patients. Qian CY et al. 2016 Chinese journal of cancer
27648838 Single Nucleotide Polymorphisms in Cellular Drug Transporters Are Associated with Intolerance to Antiretroviral Therapy in Brazilian HIV-1 Positive Individuals. Arruda MB et al. 2016 PloS one
28640195 Pharmacogenomic Variants May Influence the Urinary Excretion of Novel Kidney Injury Biomarkers in Patients Receiving Cisplatin. Chang C et al. 2017 International journal of molecular sciences
28771511 Exploring public genomics data for population pharmacogenomics. Lakiotaki K et al. 2017 PloS one

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 0.1.4.post833+d3ba21e