Name: rs8177517
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

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.

rs8177517

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:160242388 (GRCh38.p14) 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: T>C / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.001706 (547/320546, ALFA)
G=0.008228 (2178/264690, TOPMED)
G=0.007993 (1121/140250, GnomAD) (+ 10 more)
G=0.01178 (927/78696, PAGE_STUDY)
G=0.00830 (108/13006, GO-ESP)
G=0.0117 (75/6404, 1000G_30x)
G=0.0104 (52/5008, 1000G)
G=0.0002 (1/4480, Estonian)
G=0.0000 (0/3854, ALSPAC)
G=0.0003 (1/3708, TWINSUK)
G=0.027 (27/996, HapMap)
G=0.010 (4/410, PharmGKB)
G=0.014 (3/216, Qatari)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SLC22A2 : Missense Variant
Publications: 5 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	336920	T=0.998026	G=0.001974
European	Sub	284240	T=0.999237	G=0.000763
African	Sub	15898	T=0.97641	G=0.02359
African Others	Sub	568	T=0.968	G=0.032
African American	Sub	15330	T=0.97671	G=0.02329
Asian	Sub	6800	T=1.0000	G=0.0000
East Asian	Sub	4896	T=1.0000	G=0.0000
Other Asian	Sub	1904	T=1.0000	G=0.0000
Latin American 1	Sub	1276	T=0.9945	G=0.0055
Latin American 2	Sub	1850	T=0.9989	G=0.0011
South Asian	Sub	5216	T=0.9979	G=0.0021
Other	Sub	21640	T=0.99755	G=0.00245

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
Allele Frequency Aggregator	Total	Global	320546	T=0.998294	G=0.001706
Allele Frequency Aggregator	European	Sub	274136	T=0.999219	G=0.000781
Allele Frequency Aggregator	Other	Sub	20206	T=0.99777	G=0.00223
Allele Frequency Aggregator	African	Sub	11062	T=0.97577	G=0.02423
Allele Frequency Aggregator	Asian	Sub	6800	T=1.0000	G=0.0000
Allele Frequency Aggregator	South Asian	Sub	5216	T=0.9979	G=0.0021
Allele Frequency Aggregator	Latin American 2	Sub	1850	T=0.9989	G=0.0011
Allele Frequency Aggregator	Latin American 1	Sub	1276	T=0.9945	G=0.0055
TopMed	Global	Study-wide	264690	T=0.991772	G=0.008228
gnomAD - Genomes	Global	Study-wide	140250	T=0.992007	G=0.007993
gnomAD - Genomes	European	Sub	75958	T=0.99974	G=0.00026
gnomAD - Genomes	African	Sub	42024	T=0.97463	G=0.02537
gnomAD - Genomes	American	Sub	13658	T=0.99846	G=0.00154
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.9997	G=0.0003
gnomAD - Genomes	East Asian	Sub	3134	T=1.0000	G=0.0000
gnomAD - Genomes	Other	Sub	2154	T=0.9940	G=0.0060
The PAGE Study	Global	Study-wide	78696	T=0.98822	G=0.01178
The PAGE Study	AfricanAmerican	Sub	32510	T=0.97527	G=0.02473
The PAGE Study	Mexican	Sub	10810	T=0.99852	G=0.00148
The PAGE Study	Asian	Sub	8318	T=1.0000	G=0.0000
The PAGE Study	PuertoRican	Sub	7918	T=0.9961	G=0.0039
The PAGE Study	NativeHawaiian	Sub	4534	T=0.9996	G=0.0004
The PAGE Study	Cuban	Sub	4230	T=0.9957	G=0.0043
The PAGE Study	Dominican	Sub	3828	T=0.9898	G=0.0102
The PAGE Study	CentralAmerican	Sub	2450	T=0.9967	G=0.0033
The PAGE Study	SouthAmerican	Sub	1982	T=0.9985	G=0.0015
The PAGE Study	NativeAmerican	Sub	1260	T=0.9952	G=0.0048
The PAGE Study	SouthAsian	Sub	856	T=1.000	G=0.000
GO Exome Sequencing Project	Global	Study-wide	13006	T=0.99170	G=0.00830
GO Exome Sequencing Project	European American	Sub	8600	T=0.9997	G=0.0003
GO Exome Sequencing Project	African American	Sub	4406	T=0.9762	G=0.0238
1000Genomes_30x	Global	Study-wide	6404	T=0.9883	G=0.0117
1000Genomes_30x	African	Sub	1786	T=0.9586	G=0.0414
1000Genomes_30x	Europe	Sub	1266	T=1.0000	G=0.0000
1000Genomes_30x	South Asian	Sub	1202	T=1.0000	G=0.0000
1000Genomes_30x	East Asian	Sub	1170	T=1.0000	G=0.0000
1000Genomes_30x	American	Sub	980	T=0.999	G=0.001
1000Genomes	Global	Study-wide	5008	T=0.9896	G=0.0104
1000Genomes	African	Sub	1322	T=0.9614	G=0.0386
1000Genomes	East Asian	Sub	1008	T=1.0000	G=0.0000
1000Genomes	Europe	Sub	1006	T=1.0000	G=0.0000
1000Genomes	South Asian	Sub	978	T=1.000	G=0.000
1000Genomes	American	Sub	694	T=0.999	G=0.001
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.9998	G=0.0002
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=1.0000	G=0.0000
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.9997	G=0.0003
HapMap	Global	Study-wide	996	T=0.973	G=0.027
HapMap	African	Sub	690	T=0.962	G=0.038
HapMap	American	Sub	218	T=0.995	G=0.005
HapMap	Asian	Sub	88	T=1.00	G=0.00
PharmGKB Aggregated	Global	Study-wide	410	T=0.990	G=0.010
PharmGKB Aggregated	PA148180887	Sub	358	T=0.997	G=0.003
PharmGKB Aggregated	PA128172184	Sub	52	T=0.94	G=0.06
Qatari	Global	Study-wide	216	T=0.986	G=0.014

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.p14 chr 6	NC_000006.12:g.160242388T>C
GRCh38.p14 chr 6	NC_000006.12:g.160242388T>G
GRCh37.p13 chr 6	NC_000006.11:g.160663420T>C
GRCh37.p13 chr 6	NC_000006.11:g.160663420T>G

Gene: SLC22A2, solute carrier family 22 member 2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SLC22A2 transcript	NM_003058.4:c.1294A>G	K [AAA] > E [GAA]	Coding Sequence Variant
solute carrier family 22 member 2	NP_003049.2:p.Lys432Glu	K (Lys) > E (Glu)	Missense Variant
SLC22A2 transcript	NM_003058.4:c.1294A>C	K [AAA] > Q [CAA]	Coding Sequence Variant
solute carrier family 22 member 2	NP_003049.2:p.Lys432Gln	K (Lys) > Q (Gln)	Missense Variant

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.

Not Reported in ClinVar

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	T=	C	G
GRCh38.p14 chr 6	NC_000006.12:g.160242388=	NC_000006.12:g.160242388T>C	NC_000006.12:g.160242388T>G
GRCh37.p13 chr 6	NC_000006.11:g.160663420=	NC_000006.11:g.160663420T>C	NC_000006.11:g.160663420T>G
SLC22A2 transcript	NM_003058.4:c.1294=	NM_003058.4:c.1294A>G	NM_003058.4:c.1294A>C
SLC22A2 transcript	NM_003058.3:c.1294=	NM_003058.3:c.1294A>G	NM_003058.3:c.1294A>C
SLC22A2 transcript variant 2	NM_153191.1:c.*978=	NM_153191.1:c.*978A>G	NM_153191.1:c.*978A>C
solute carrier family 22 member 2	NP_003049.2:p.Lys432=	NP_003049.2:p.Lys432Glu	NP_003049.2:p.Lys432Gln

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#.

104 SubSNP, 17 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	PERLEGEN	ss23460333	Sep 20, 2004 (123)
2	PERLEGEN	ss68998625	May 17, 2007 (127)
3	PHARMGKB_PMT	ss69371717	May 17, 2007 (127)
4	ILLUMINA	ss74868006	Dec 06, 2007 (129)
5	PHARMGKB_AB_DME	ss84166336	Dec 14, 2007 (130)
6	SNP500CANCER	ss105439916	Feb 04, 2009 (130)
7	KRIBB_YJKIM	ss119586240	Dec 01, 2009 (131)
8	ILLUMINA	ss154471196	Dec 01, 2009 (131)
9	ILLUMINA	ss159645731	Dec 01, 2009 (131)
10	SEATTLESEQ	ss159713978	Dec 01, 2009 (131)
11	ILLUMINA	ss160953688	Dec 01, 2009 (131)
12	ILLUMINA	ss174732945	Jul 04, 2010 (132)
13	1000GENOMES	ss222794668	Jul 14, 2010 (132)
14	ILLUMINA	ss244312872	Jul 04, 2010 (132)
15	NHLBI-ESP	ss342228018	May 09, 2011 (134)
16	ILLUMINA	ss481392193	May 04, 2012 (137)
17	ILLUMINA	ss481795911	May 04, 2012 (137)
18	ILLUMINA	ss481828263	May 04, 2012 (137)
19	ILLUMINA	ss482789703	Sep 08, 2015 (146)
20	ILLUMINA	ss485189252	May 04, 2012 (137)
21	ILLUMINA	ss485692593	May 04, 2012 (137)
22	1000GENOMES	ss490938360	May 04, 2012 (137)
23	EXOME_CHIP	ss491394453	May 04, 2012 (137)
24	CLINSEQ_SNP	ss491899726	May 04, 2012 (137)
25	ILLUMINA	ss534259820	Sep 08, 2015 (146)
26	TISHKOFF	ss559668129	Apr 25, 2013 (138)
27	ILLUMINA	ss780856147	Aug 21, 2014 (142)
28	ILLUMINA	ss781469893	Sep 08, 2015 (146)
29	ILLUMINA	ss783291880	Sep 08, 2015 (146)
30	ILLUMINA	ss783540222	Aug 21, 2014 (142)
31	ILLUMINA	ss832553135	Sep 08, 2015 (146)
32	ILLUMINA	ss833156563	Jul 13, 2019 (153)
33	ILLUMINA	ss834565063	Sep 08, 2015 (146)
34	1000GENOMES	ss1323145043	Aug 21, 2014 (142)
35	EVA_UK10K_ALSPAC	ss1617168081	Apr 01, 2015 (144)
36	EVA_UK10K_TWINSUK	ss1660162114	Apr 01, 2015 (144)
37	EVA_EXAC	ss1688575557	Apr 01, 2015 (144)
38	EVA_EXAC	ss1688575558	Apr 01, 2015 (144)
39	ILLUMINA	ss1752612914	Sep 08, 2015 (146)
40	ILLUMINA	ss1752612915	Sep 08, 2015 (146)
41	ILLUMINA	ss1917813153	Feb 12, 2016 (147)
42	WEILL_CORNELL_DGM	ss1926971453	Feb 12, 2016 (147)
43	ILLUMINA	ss1946197213	Feb 12, 2016 (147)
44	ILLUMINA	ss1946197214	Feb 12, 2016 (147)
45	ILLUMINA	ss1958968954	Feb 12, 2016 (147)
46	ILLUMINA	ss1958968955	Feb 12, 2016 (147)
47	HUMAN_LONGEVITY	ss2290202552	Dec 20, 2016 (150)
48	ILLUMINA	ss2634539465	Nov 08, 2017 (151)
49	ILLUMINA	ss2634539466	Nov 08, 2017 (151)
50	ILLUMINA	ss2634539467	Nov 08, 2017 (151)
51	ILLUMINA	ss2711097354	Nov 08, 2017 (151)
52	GNOMAD	ss2736183567	Nov 08, 2017 (151)
53	GNOMAD	ss2747740121	Nov 08, 2017 (151)
54	GNOMAD	ss2847582032	Nov 08, 2017 (151)
55	AFFY	ss2985394240	Nov 08, 2017 (151)
56	AFFY	ss2986020861	Nov 08, 2017 (151)
57	ILLUMINA	ss3022687434	Nov 08, 2017 (151)
58	ILLUMINA	ss3022687435	Nov 08, 2017 (151)
59	ILLUMINA	ss3625917898	Oct 12, 2018 (152)
60	ILLUMINA	ss3629706120	Oct 12, 2018 (152)
61	ILLUMINA	ss3629706121	Oct 12, 2018 (152)
62	ILLUMINA	ss3632451124	Oct 12, 2018 (152)
63	ILLUMINA	ss3633445346	Oct 12, 2018 (152)
64	ILLUMINA	ss3634169286	Oct 12, 2018 (152)
65	ILLUMINA	ss3635098768	Oct 12, 2018 (152)
66	ILLUMINA	ss3635098769	Oct 12, 2018 (152)
67	ILLUMINA	ss3635849548	Oct 12, 2018 (152)
68	ILLUMINA	ss3636827769	Oct 12, 2018 (152)
69	ILLUMINA	ss3637602451	Oct 12, 2018 (152)
70	ILLUMINA	ss3638669534	Oct 12, 2018 (152)
71	ILLUMINA	ss3640806069	Oct 12, 2018 (152)
72	ILLUMINA	ss3640806070	Oct 12, 2018 (152)
73	ILLUMINA	ss3643607741	Oct 12, 2018 (152)
74	ILLUMINA	ss3644930351	Oct 12, 2018 (152)
75	ILLUMINA	ss3644930352	Oct 12, 2018 (152)
76	ILLUMINA	ss3653213163	Oct 12, 2018 (152)
77	ILLUMINA	ss3653213164	Oct 12, 2018 (152)
78	ILLUMINA	ss3654154211	Oct 12, 2018 (152)
79	EGCUT_WGS	ss3668238321	Jul 13, 2019 (153)
80	ILLUMINA	ss3726403246	Jul 13, 2019 (153)
81	ILLUMINA	ss3744282119	Jul 13, 2019 (153)
82	ILLUMINA	ss3744563623	Jul 13, 2019 (153)
83	ILLUMINA	ss3745398683	Jul 13, 2019 (153)
84	ILLUMINA	ss3745398684	Jul 13, 2019 (153)
85	PAGE_CC	ss3771337899	Jul 13, 2019 (153)
86	ILLUMINA	ss3772891984	Jul 13, 2019 (153)
87	ILLUMINA	ss3772891985	Jul 13, 2019 (153)
88	KHV_HUMAN_GENOMES	ss3809101470	Jul 13, 2019 (153)
89	EVA	ss3824241768	Apr 26, 2020 (154)
90	FSA-LAB	ss3984354029	Apr 26, 2021 (155)
91	FSA-LAB	ss3984354030	Apr 26, 2021 (155)
92	EVA	ss3986365911	Apr 26, 2021 (155)
93	TOPMED	ss4729275720	Apr 26, 2021 (155)
94	EVA	ss5237648212	Oct 13, 2022 (156)
95	1000G_HIGH_COVERAGE	ss5271117032	Oct 13, 2022 (156)
96	EVA	ss5370406476	Oct 13, 2022 (156)
97	HUGCELL_USP	ss5468492289	Oct 13, 2022 (156)
98	1000G_HIGH_COVERAGE	ss5558437160	Oct 13, 2022 (156)
99	SANFORD_IMAGENETICS	ss5641931458	Oct 13, 2022 (156)
100	EVA	ss5843289685	Oct 13, 2022 (156)
101	EVA	ss5848121414	Oct 13, 2022 (156)
102	EVA	ss5886839324	Oct 13, 2022 (156)
103	EVA	ss5970989485	Oct 13, 2022 (156)
104	EVA	ss5970989486	Oct 13, 2022 (156)
105	1000Genomes	NC_000006.11 - 160663420	Oct 12, 2018 (152)
106	1000Genomes_30x	NC_000006.12 - 160242388	Oct 13, 2022 (156)
107	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 160663420	Oct 12, 2018 (152)
108	Genetic variation in the Estonian population	NC_000006.11 - 160663420	Oct 12, 2018 (152)
109	ExAC Submission ignored due to conflicting rows: Row 8628879 (NC_000006.11:160663419:T:T 120966/121312, NC_000006.11:160663419:T:G 346/121312) Row 8628880 (NC_000006.11:160663419:T:T 121311/121312, NC_000006.11:160663419:T:C 1/121312)	-	Oct 12, 2018 (152)
110	ExAC Submission ignored due to conflicting rows: Row 8628879 (NC_000006.11:160663419:T:T 120966/121312, NC_000006.11:160663419:T:G 346/121312) Row 8628880 (NC_000006.11:160663419:T:T 121311/121312, NC_000006.11:160663419:T:C 1/121312)	-	Oct 12, 2018 (152)
111	gnomAD - Genomes	NC_000006.12 - 160242388	Apr 26, 2021 (155)
112	gnomAD - Exomes Submission ignored due to conflicting rows: Row 5339143 (NC_000006.11:160663419:T:T 251023/251024, NC_000006.11:160663419:T:C 1/251024) Row 5339144 (NC_000006.11:160663419:T:T 250432/251024, NC_000006.11:160663419:T:G 592/251024)	-	Jul 13, 2019 (153)
113	gnomAD - Exomes Submission ignored due to conflicting rows: Row 5339143 (NC_000006.11:160663419:T:T 251023/251024, NC_000006.11:160663419:T:C 1/251024) Row 5339144 (NC_000006.11:160663419:T:T 250432/251024, NC_000006.11:160663419:T:G 592/251024)	-	Jul 13, 2019 (153)
114	GO Exome Sequencing Project	NC_000006.11 - 160663420	Oct 12, 2018 (152)
115	HapMap	NC_000006.12 - 160242388	Apr 26, 2020 (154)
116	The PAGE Study	NC_000006.12 - 160242388	Jul 13, 2019 (153)
117	PharmGKB Aggregated	NC_000006.12 - 160242388	Apr 26, 2020 (154)
118	Qatari	NC_000006.11 - 160663420	Apr 26, 2020 (154)
119	TopMed	NC_000006.12 - 160242388	Apr 26, 2021 (155)
120	UK 10K study - Twins	NC_000006.11 - 160663420	Oct 12, 2018 (152)
121	ALFA	NC_000006.12 - 160242388	Apr 26, 2021 (155)

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)
rs57500297	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss1688575558, ss2736183567	NC_000006.11:160663419:T:C	NC_000006.12:160242387:T:C	(self)
ss481795911, ss485189252, ss491899726, ss3643607741	NC_000006.10:160583409:T:G	NC_000006.12:160242387:T:G	(self)
35047246, 19546245, 13976569, 699751, 9013383, 19546245, ss222794668, ss342228018, ss481392193, ss481828263, ss482789703, ss485692593, ss490938360, ss491394453, ss534259820, ss559668129, ss780856147, ss781469893, ss783291880, ss783540222, ss832553135, ss833156563, ss834565063, ss1323145043, ss1617168081, ss1660162114, ss1688575557, ss1752612914, ss1752612915, ss1917813153, ss1926971453, ss1946197213, ss1946197214, ss1958968954, ss1958968955, ss2634539465, ss2634539466, ss2634539467, ss2711097354, ss2736183567, ss2747740121, ss2847582032, ss2985394240, ss2986020861, ss3022687434, ss3022687435, ss3625917898, ss3629706120, ss3629706121, ss3632451124, ss3633445346, ss3634169286, ss3635098768, ss3635098769, ss3635849548, ss3636827769, ss3637602451, ss3638669534, ss3640806069, ss3640806070, ss3644930351, ss3644930352, ss3653213163, ss3653213164, ss3654154211, ss3668238321, ss3744282119, ss3744563623, ss3745398683, ss3745398684, ss3772891984, ss3772891985, ss3824241768, ss3984354029, ss3984354030, ss3986365911, ss5370406476, ss5641931458, ss5843289685, ss5848121414, ss5970989485, ss5970989486	NC_000006.11:160663419:T:G	NC_000006.12:160242387:T:G	(self)
45963095, 247396365, 3297306, 559368, 11056, 566653278, 6118231858, ss2290202552, ss3726403246, ss3771337899, ss3809101470, ss4729275720, ss5237648212, ss5271117032, ss5468492289, ss5558437160, ss5886839324	NC_000006.12:160242387:T:G	NC_000006.12:160242387:T:G	(self)
ss23460333, ss68998625, ss69371717, ss74868006, ss84166336, ss105439916, ss119586240, ss154471196, ss159645731, ss159713978, ss160953688, ss174732945, ss244312872	NT_025741.15:64832876:T:G	NC_000006.12:160242387:T:G	(self)

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

5 citations for rs8177517

PMID	Title	Author	Year	Journal
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
24944790	Screening for 392 polymorphisms in 141 pharmacogenes.	Kim JY et al.	2014	Biomedical reports
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
29193749	Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years.	Borobia AM et al.	2018	Clinical and translational science
29681089	Genetic variation in biotransformation enzymes, air pollution exposures, and risk of spina bifida.	Padula AM et al.	2018	American journal of medical genetics. Part A

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs8177517