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dbSNP Short Genetic Variations

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.


Current Build 154

Released April 21, 2020

Homo sapiens
chr8:18221704 (GRCh38.p12) 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.

C>A / C>T
Variation Type
SNV Single Nucleotide Variation
T=0.018309 (2299/125568, TOPMED)
T=0.00987 (777/78700, PAGE_STUDY)
T=0.02251 (1116/49584, ALFA Project) (+ 15 more)
T=0.01842 (578/31386, GnomAD)
T=0.0168 (84/5008, 1000G)
T=0.0328 (147/4480, Estonian)
T=0.0171 (66/3854, ALSPAC)
T=0.0165 (61/3708, TWINSUK)
T=0.0041 (12/2922, KOREAN)
T=0.0060 (11/1832, Korea1K)
T=0.0206 (37/1792, HapMap)
T=0.024 (24/998, GoNL)
T=0.012 (7/600, NorthernSweden)
T=0.003 (1/354, PharmGKB)
T=0.102 (22/216, Qatari)
T=0.009 (2/212, Vietnamese)
C=0.50 (12/24, SGDP_PRJ)
T=0.50 (12/24, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NAT1 : Intron Variant
8 citations
Genomic View
See rs on genome

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.p12 chr 8 NC_000008.11:g.18221704C>A
GRCh38.p12 chr 8 NC_000008.11:g.18221704C>T
GRCh37.p13 chr 8 NC_000008.10:g.18079213C>A
GRCh37.p13 chr 8 NC_000008.10:g.18079213C>T
NAT1 RefSeqGene NG_012245.2:g.56243C>A
NAT1 RefSeqGene NG_012245.2:g.56243C>T
Gene: NAT1, N-acetyltransferase 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT1 transcript variant 5 NM_000662.8:c.-6-338C>A N/A Intron Variant
NAT1 transcript variant 1 NM_001160170.4:c.-6-338C>A N/A Intron Variant
NAT1 transcript variant 2 NM_001160171.4:c.-6-338C>A N/A Intron Variant
NAT1 transcript variant 3 NM_001160172.4:c.-6-338C>A N/A Intron Variant
NAT1 transcript variant 4 NM_001160173.3:c.-6-338C>A N/A Intron Variant
NAT1 transcript variant 7 NM_001160175.4:c.181-338C…


N/A Intron Variant
NAT1 transcript variant 8 NM_001160176.4:c.181-338C…


N/A Intron Variant
NAT1 transcript variant 9 NM_001160179.3:c.-6-338C>A N/A Intron Variant
NAT1 transcript variant 10 NM_001291962.2:c.181-338C…


N/A Intron Variant
NAT1 transcript variant 6 NM_001160174.2:c.-344= N/A 5 Prime UTR Variant
NAT1 transcript variant X4 XM_006716410.3:c.-6-338C>A N/A Intron Variant
NAT1 transcript variant X2 XM_011544687.1:c.181-338C…


N/A Intron Variant
NAT1 transcript variant X1 XM_011544688.1:c.181-338C…


N/A Intron Variant
NAT1 transcript variant X5 XM_011544689.2:c.-6-338C>A N/A Intron Variant
NAT1 transcript variant X3 XM_017013947.1:c.181-338C…


N/A Intron 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

ALFA Allele Frequency (New)
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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 162774 C=0.976446 A=0.000000, T=0.023554
European Sub 136482 C=0.974370 A=0.000000, T=0.025630
African Sub 10004 C=0.99710 A=0.00000, T=0.00290
African Others Sub 350 C=1.000 A=0.000, T=0.000
African American Sub 9654 C=0.9970 A=0.0000, T=0.0030
Asian Sub 3678 C=0.9910 A=0.0000, T=0.0090
East Asian Sub 3010 C=0.9950 A=0.0000, T=0.0050
Other Asian Sub 668 C=0.973 A=0.000, T=0.027
Latin American 1 Sub 872 C=0.978 A=0.000, T=0.022
Latin American 2 Sub 5262 C=0.9892 A=0.0000, T=0.0108
South Asian Sub 342 C=0.977 A=0.000, T=0.023
Other Sub 6134 C=0.9690 A=0.0000, T=0.0310


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").

Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 125568 C=0.981683 A=0.000008, T=0.018309
The PAGE Study Global Study-wide 78700 C=0.99013 T=0.00987
The PAGE Study AfricanAmerican Sub 32514 C=0.99514 T=0.00486
The PAGE Study Mexican Sub 10810 C=0.98298 T=0.01702
The PAGE Study Asian Sub 8318 C=0.9950 T=0.0050
The PAGE Study PuertoRican Sub 7918 C=0.9856 T=0.0144
The PAGE Study NativeHawaiian Sub 4534 C=0.9894 T=0.0106
The PAGE Study Cuban Sub 4230 C=0.9787 T=0.0213
The PAGE Study Dominican Sub 3828 C=0.9906 T=0.0094
The PAGE Study CentralAmerican Sub 2450 C=0.9861 T=0.0139
The PAGE Study SouthAmerican Sub 1982 C=0.9849 T=0.0151
The PAGE Study NativeAmerican Sub 1260 C=0.9857 T=0.0143
The PAGE Study SouthAsian Sub 856 C=0.973 T=0.027
ALFA Total Global 49584 C=0.97749 A=0.00000, T=0.02251
ALFA European Sub 38756 C=0.97389 A=0.00000, T=0.02611
ALFA African Sub 5270 C=0.9956 A=0.0000, T=0.0044
ALFA Latin American 2 Sub 4130 C=0.9884 A=0.0000, T=0.0116
ALFA Other Sub 890 C=0.973 A=0.000, T=0.027
ALFA Latin American 1 Sub 414 C=0.981 A=0.000, T=0.019
ALFA Asian Sub 64 C=1.00 A=0.00, T=0.00
ALFA South Asian Sub 60 C=0.98 A=0.00, T=0.02
gnomAD - Genomes Global Study-wide 31386 C=0.98158 T=0.01842
gnomAD - Genomes European Sub 18898 C=0.97518 T=0.02482
gnomAD - Genomes African Sub 8710 C=0.9943 T=0.0057
gnomAD - Genomes East Asian Sub 1556 C=0.9916 T=0.0084
gnomAD - Genomes Other Sub 1086 C=0.9788 T=0.0212
gnomAD - Genomes American Sub 846 C=0.987 T=0.013
gnomAD - Genomes Ashkenazi Jewish Sub 290 C=0.959 T=0.041
1000Genomes Global Study-wide 5008 C=0.9832 T=0.0168
1000Genomes African Sub 1322 C=0.9970 T=0.0030
1000Genomes East Asian Sub 1008 C=0.9940 T=0.0060
1000Genomes Europe Sub 1006 C=0.9751 T=0.0249
1000Genomes South Asian Sub 978 C=0.959 T=0.041
1000Genomes American Sub 694 C=0.987 T=0.013
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9672 T=0.0328
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9829 T=0.0171
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9835 T=0.0165
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.9959 T=0.0041
Korean Genome Project KOREAN Study-wide 1832 C=0.9940 T=0.0060
HapMap Global Study-wide 1792 C=0.9794 T=0.0206
HapMap African Sub 692 C=0.994 T=0.006
HapMap American Sub 672 C=0.966 T=0.034
HapMap Asian Sub 254 C=0.988 T=0.012
HapMap Europe Sub 174 C=0.960 T=0.040
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.976 T=0.024
Northern Sweden ACPOP Study-wide 600 C=0.988 T=0.012
PharmGKB Aggregated Global Study-wide 354 C=0.997 T=0.003
PharmGKB Aggregated PA147977700 Sub 354 C=0.997 T=0.003
Qatari Global Study-wide 216 C=0.898 T=0.102
A Vietnamese Genetic Variation Database Global Study-wide 212 C=0.991 T=0.009
SGDP_PRJ Global Study-wide 24 C=0.50 T=0.50

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= A T
GRCh38.p12 chr 8 NC_000008.11:g.18221704= NC_000008.11:g.18221704C>A NC_000008.11:g.18221704C>T
GRCh37.p13 chr 8 NC_000008.10:g.18079213= NC_000008.10:g.18079213C>A NC_000008.10:g.18079213C>T
NAT1 RefSeqGene NG_012245.2:g.56243= NG_012245.2:g.56243C>A NG_012245.2:g.56243C>T
NAT1 transcript variant 6 NM_001160174.2:c.-344= NM_001160174.2:c.-344C>A NM_001160174.2:c.-344C>T
NAT1 transcript variant 6 NM_001160174.1:c.-344= NM_001160174.1:c.-344C>A NM_001160174.1:c.-344C>T
NAT1 transcript variant 5 NM_000662.5:c.-6-338= NM_000662.5:c.-6-338C>A NM_000662.5:c.-6-338C>T
NAT1 transcript variant 5 NM_000662.8:c.-6-338= NM_000662.8:c.-6-338C>A NM_000662.8:c.-6-338C>T
NAT1 transcript variant 1 NM_001160170.1:c.-6-338= NM_001160170.1:c.-6-338C>A NM_001160170.1:c.-6-338C>T
NAT1 transcript variant 1 NM_001160170.4:c.-6-338= NM_001160170.4:c.-6-338C>A NM_001160170.4:c.-6-338C>T
NAT1 transcript variant 2 NM_001160171.1:c.-6-338= NM_001160171.1:c.-6-338C>A NM_001160171.1:c.-6-338C>T
NAT1 transcript variant 2 NM_001160171.4:c.-6-338= NM_001160171.4:c.-6-338C>A NM_001160171.4:c.-6-338C>T
NAT1 transcript variant 3 NM_001160172.1:c.-6-338= NM_001160172.1:c.-6-338C>A NM_001160172.1:c.-6-338C>T
NAT1 transcript variant 3 NM_001160172.4:c.-6-338= NM_001160172.4:c.-6-338C>A NM_001160172.4:c.-6-338C>T
NAT1 transcript variant 4 NM_001160173.1:c.-6-338= NM_001160173.1:c.-6-338C>A NM_001160173.1:c.-6-338C>T
NAT1 transcript variant 4 NM_001160173.3:c.-6-338= NM_001160173.3:c.-6-338C>A NM_001160173.3:c.-6-338C>T
NAT1 transcript variant 7 NM_001160175.1:c.181-338= NM_001160175.1:c.181-338C>A NM_001160175.1:c.181-338C>T
NAT1 transcript variant 7 NM_001160175.4:c.181-338= NM_001160175.4:c.181-338C>A NM_001160175.4:c.181-338C>T
NAT1 transcript variant 8 NM_001160176.1:c.181-338= NM_001160176.1:c.181-338C>A NM_001160176.1:c.181-338C>T
NAT1 transcript variant 8 NM_001160176.4:c.181-338= NM_001160176.4:c.181-338C>A NM_001160176.4:c.181-338C>T
NAT1 transcript variant 9 NM_001160179.1:c.-6-338= NM_001160179.1:c.-6-338C>A NM_001160179.1:c.-6-338C>T
NAT1 transcript variant 9 NM_001160179.3:c.-6-338= NM_001160179.3:c.-6-338C>A NM_001160179.3:c.-6-338C>T
NAT1 transcript variant 10 NM_001291962.2:c.181-338= NM_001291962.2:c.181-338C>A NM_001291962.2:c.181-338C>T
NAT1 transcript variant X1 XM_005273677.1:c.181-338= XM_005273677.1:c.181-338C>A XM_005273677.1:c.181-338C>T
NAT1 transcript variant X2 XM_005273678.1:c.-6-338= XM_005273678.1:c.-6-338C>A XM_005273678.1:c.-6-338C>T
NAT1 transcript variant X3 XM_005273679.1:c.-6-338= XM_005273679.1:c.-6-338C>A XM_005273679.1:c.-6-338C>T
NAT1 transcript variant X4 XM_006716410.3:c.-6-338= XM_006716410.3:c.-6-338C>A XM_006716410.3:c.-6-338C>T
NAT1 transcript variant X2 XM_011544687.1:c.181-338= XM_011544687.1:c.181-338C>A XM_011544687.1:c.181-338C>T
NAT1 transcript variant X1 XM_011544688.1:c.181-338= XM_011544688.1:c.181-338C>A XM_011544688.1:c.181-338C>T
NAT1 transcript variant X5 XM_011544689.2:c.-6-338= XM_011544689.2:c.-6-338C>A XM_011544689.2:c.-6-338C>T
NAT1 transcript variant X3 XM_017013947.1:c.181-338= XM_017013947.1:c.181-338C>A XM_017013947.1:c.181-338C>T

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#.

56 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 SNP500CANCER ss5586786 Mar 31, 2003 (113)
2 EGP_SNPS ss12584636 Aug 26, 2003 (117)
3 EGP_SNPS ss32478875 May 24, 2005 (125)
4 ILLUMINA ss75264441 Dec 07, 2007 (129)
5 PHARMGKB_AB_DME ss84168360 Dec 15, 2007 (130)
6 KRIBB_YJKIM ss119497108 Dec 01, 2009 (131)
7 ILLUMINA ss160735777 Dec 01, 2009 (131)
8 ILLUMINA ss173903469 Jul 04, 2010 (132)
9 1000GENOMES ss234344887 Jul 15, 2010 (132)
10 ILLUMINA ss481125911 May 04, 2012 (137)
11 ILLUMINA ss482137006 Sep 08, 2015 (146)
12 ILLUMINA ss536176364 Sep 08, 2015 (146)
13 SSMP ss655023154 Apr 25, 2013 (138)
14 EVA-GONL ss985254171 Aug 21, 2014 (142)
15 JMKIDD_LAB ss1075324494 Aug 21, 2014 (142)
16 1000GENOMES ss1328847085 Aug 21, 2014 (142)
17 DDI ss1431435945 Apr 01, 2015 (144)
18 EVA_DECODE ss1594843089 Apr 01, 2015 (144)
19 EVA_UK10K_ALSPAC ss1620096444 Apr 01, 2015 (144)
20 EVA_UK10K_TWINSUK ss1663090477 Apr 01, 2015 (144)
21 EVA_SVP ss1713019441 Apr 01, 2015 (144)
22 WEILL_CORNELL_DGM ss1928543846 Feb 12, 2016 (147)
23 ILLUMINA ss1946231039 Feb 12, 2016 (147)
24 ILLUMINA ss1959092226 Feb 12, 2016 (147)
25 JJLAB ss2024970093 Sep 14, 2016 (149)
26 HUMAN_LONGEVITY ss2301150625 Dec 20, 2016 (150)
27 TOPMED ss2470808460 Dec 20, 2016 (150)
28 ILLUMINA ss2634717586 Nov 08, 2017 (151)
29 GRF ss2708952059 Nov 08, 2017 (151)
30 ILLUMINA ss2711131545 Nov 08, 2017 (151)
31 GNOMAD ss2863914971 Nov 08, 2017 (151)
32 AFFY ss2985432563 Nov 08, 2017 (151)
33 AFFY ss2986074617 Nov 08, 2017 (151)
34 SWEGEN ss3002777594 Nov 08, 2017 (151)
35 ILLUMINA ss3022824275 Nov 08, 2017 (151)
36 TOPMED ss3555474968 Nov 08, 2017 (151)
37 TOPMED ss3555474969 Nov 08, 2017 (151)
38 ILLUMINA ss3625946878 Oct 12, 2018 (152)
39 ILLUMINA ss3630009284 Oct 12, 2018 (152)
40 ILLUMINA ss3636897908 Oct 12, 2018 (152)
41 ILLUMINA ss3638747159 Oct 12, 2018 (152)
42 ILLUMINA ss3643679050 Oct 12, 2018 (152)
43 ILLUMINA ss3644964215 Oct 12, 2018 (152)
44 ILLUMINA ss3653365097 Oct 12, 2018 (152)
45 ILLUMINA ss3654194350 Oct 12, 2018 (152)
46 EGCUT_WGS ss3670456195 Jul 13, 2019 (153)
47 EVA_DECODE ss3721523284 Jul 13, 2019 (153)
48 ILLUMINA ss3726518674 Jul 13, 2019 (153)
49 ACPOP ss3735451678 Jul 13, 2019 (153)
50 ILLUMINA ss3744302532 Jul 13, 2019 (153)
51 EVA ss3767695996 Jul 13, 2019 (153)
52 PAGE_CC ss3771427350 Jul 13, 2019 (153)
53 KHV_HUMAN_GENOMES ss3810859196 Jul 13, 2019 (153)
54 SGDP_PRJ ss3869401305 Apr 26, 2020 (154)
55 KRGDB ss3916826259 Apr 26, 2020 (154)
56 KOGIC ss3963372423 Apr 26, 2020 (154)
57 1000Genomes NC_000008.10 - 18079213 Oct 12, 2018 (152)
58 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 18079213 Oct 12, 2018 (152)
59 Genetic variation in the Estonian population NC_000008.10 - 18079213 Oct 12, 2018 (152)
60 gnomAD - Genomes NC_000008.10 - 18079213 Jul 13, 2019 (153)
61 Genome of the Netherlands Release 5 NC_000008.10 - 18079213 Apr 26, 2020 (154)
62 HapMap NC_000008.11 - 18221704 Apr 26, 2020 (154)
63 KOREAN population from KRGDB NC_000008.10 - 18079213 Apr 26, 2020 (154)
64 Korean Genome Project NC_000008.11 - 18221704 Apr 26, 2020 (154)
65 Northern Sweden NC_000008.10 - 18079213 Jul 13, 2019 (153)
66 The PAGE Study NC_000008.11 - 18221704 Jul 13, 2019 (153)
67 PharmGKB Aggregated NC_000008.11 - 18221704 Apr 26, 2020 (154)
68 Qatari NC_000008.10 - 18079213 Apr 26, 2020 (154)
69 SGDP_PRJ NC_000008.10 - 18079213 Apr 26, 2020 (154)
70 TopMed NC_000008.11 - 18221704 Oct 12, 2018 (152)
71 UK 10K study - Twins NC_000008.10 - 18079213 Oct 12, 2018 (152)
72 A Vietnamese Genetic Variation Database NC_000008.10 - 18079213 Jul 13, 2019 (153)
73 dbGaP Population Frequency Project NC_000008.11 - 18221704 Apr 26, 2020 (154)

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)
rs61012158 May 26, 2008 (130)
rs386498510 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
384349380, 338676896, ss3555474968 NC_000008.11:18221703:C:A NC_000008.11:18221703:C:A (self)
ss481125911, ss1594843089, ss1713019441, ss3643679050 NC_000008.9:18123492:C:T NC_000008.11:18221703:C:T (self)
40940068, 22757050, 16194443, 111829218, 10168785, 24003653, 8736543, 10585776, 21418285, 22757050, 5073550, ss234344887, ss482137006, ss536176364, ss655023154, ss985254171, ss1075324494, ss1328847085, ss1431435945, ss1620096444, ss1663090477, ss1928543846, ss1946231039, ss1959092226, ss2024970093, ss2470808460, ss2634717586, ss2708952059, ss2711131545, ss2863914971, ss2985432563, ss2986074617, ss3002777594, ss3022824275, ss3625946878, ss3630009284, ss3636897908, ss3638747159, ss3644964215, ss3653365097, ss3654194350, ss3670456195, ss3735451678, ss3744302532, ss3767695996, ss3869401305, ss3916826259 NC_000008.10:18079212:C:T NC_000008.11:18221703:C:T (self)
3577045, 19750424, 648819, 12423, 384349380, 338676896, ss2301150625, ss3555474969, ss3721523284, ss3726518674, ss3771427350, ss3810859196, ss3963372423 NC_000008.11:18221703:C:T NC_000008.11:18221703:C:T (self)
ss5586786, ss12584636, ss32478875, ss75264441, ss84168360, ss119497108, ss160735777, ss173903469 NT_167187.1:5937358:C:T NC_000008.11:18221703:C:T (self)

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

8 citations for rs4986988
PMID Title Author Year Journal
16416399 Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes. Patin E et al. 2006 American journal of human genetics
20436251 Xenobiotic metabolizing genes, meat-related exposures, and risk of advanced colorectal adenoma. Ferrucci LM et al. 2010 World review of nutrition and dietetics
21474949 Xenobiotic metabolizing genes, meat-related exposures, and risk of advanced colorectal adenoma. Ferrucci LM et al. 2010 Journal of nutrigenetics and nutrigenomics
21878835 Human N-acetyltransferase 1 *10 and *11 alleles increase protein expression through distinct mechanisms and associate with sulfamethoxazole-induced hypersensitivity. Wang D et al. 2011 Pharmacogenetics and genomics
22645715 Xenobiotic metabolizing gene variants and renal cell cancer: a multicenter study. Heck JE et al. 2012 Frontiers in oncology
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
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
Top Help

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: 2.0.1.post557+f76c771