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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.

rs4986996

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr8:18400367 (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.

Alleles
G>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000008 (1/125568, TOPMED)
A=0.00003 (1/31376, GnomAD)
A=0.0000 (0/2368, ALFA Project) (+ 2 more)
C=0.0000 (0/2368, dbGaP Population Frequency Project)
A=0.000 (0/326, HapMap)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NAT2 : Missense Variant
Publications
2 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.p12 chr 8 NC_000008.11:g.18400367G>A
GRCh38.p12 chr 8 NC_000008.11:g.18400367G>C
GRCh38.p12 chr 8 NC_000008.11:g.18400367G>T
GRCh37.p13 chr 8 NC_000008.10:g.18257877G>A
GRCh37.p13 chr 8 NC_000008.10:g.18257877G>C
GRCh37.p13 chr 8 NC_000008.10:g.18257877G>T
NAT2 RefSeqGene NG_012246.1:g.14123G>A
NAT2 RefSeqGene NG_012246.1:g.14123G>C
NAT2 RefSeqGene NG_012246.1:g.14123G>T
Gene: NAT2, N-acetyltransferase 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT2 transcript NM_000015.3:c.364G>A D [GAT] > N [AAT] Coding Sequence Variant
arylamine N-acetyltransferase 2 NP_000006.2:p.Asp122Asn D (Asp) > N (Asn) Missense Variant
NAT2 transcript NM_000015.3:c.364G>C D [GAT] > H [CAT] Coding Sequence Variant
arylamine N-acetyltransferase 2 NP_000006.2:p.Asp122His D (Asp) > H (His) Missense Variant
NAT2 transcript NM_000015.3:c.364G>T D [GAT] > Y [TAT] Coding Sequence Variant
arylamine N-acetyltransferase 2 NP_000006.2:p.Asp122Tyr D (Asp) > Y (Tyr) Missense Variant
NAT2 transcript variant X1 XM_017012938.1:c.364G>A D [GAT] > N [AAT] Coding Sequence Variant
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Asp122Asn D (Asp) > N (Asn) Missense Variant
NAT2 transcript variant X1 XM_017012938.1:c.364G>C D [GAT] > H [CAT] Coding Sequence Variant
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Asp122His D (Asp) > H (His) Missense Variant
NAT2 transcript variant X1 XM_017012938.1:c.364G>T D [GAT] > Y [TAT] Coding Sequence Variant
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Asp122Tyr D (Asp) > Y (Tyr) Missense 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.

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: 20200227123210
Population Group Sample Size Ref Allele Alt Allele
Total Global 2368 G=1.0000 A=0.0000, C=0.0000
European Sub 2150 G=1.0000 A=0.0000, C=0.0000
African Sub 90 G=1.00 A=0.00, C=0.00
African Others Sub 6 G=1.0 A=0.0, C=0.0
African American Sub 84 G=1.00 A=0.00, C=0.00
Asian Sub 38 G=1.00 A=0.00, C=0.00
East Asian Sub 36 G=1.00 A=0.00, C=0.00
Other Asian Sub 2 G=1.0 A=0.0, C=0.0
Latin American 1 Sub 0 G=0 A=0, C=0
Latin American 2 Sub 0 G=0 A=0, C=0
South Asian Sub 10 G=1.0 A=0.0, C=0.0
Other Sub 80 G=1.00 A=0.00, C=0.00


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
TopMed Global Study-wide 125568 G=0.999992 C=0.000008
gnomAD - Genomes Global Study-wide 31376 G=0.99997 A=0.00003
gnomAD - Genomes European Sub 18896 G=1.00000 A=0.00000
gnomAD - Genomes African Sub 8700 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 1556 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 1086 G=1.0000 A=0.0000
gnomAD - Genomes American Sub 848 G=0.999 A=0.001
gnomAD - Genomes Ashkenazi Jewish Sub 290 G=1.000 A=0.000
ALFA Total Global 2368 G=1.0000 A=0.0000, C=0.0000
ALFA European Sub 2150 G=1.0000 A=0.0000, C=0.0000
ALFA African Sub 90 G=1.00 A=0.00, C=0.00
ALFA Other Sub 80 G=1.00 A=0.00, C=0.00
ALFA Asian Sub 38 G=1.00 A=0.00, C=0.00
ALFA South Asian Sub 10 G=1.0 A=0.0, C=0.0
ALFA Latin American 1 Sub 0 G=0 A=0, C=0
ALFA Latin American 2 Sub 0 G=0 A=0, C=0
HapMap Global Study-wide 326 G=1.000 A=0.000
HapMap American Sub 120 G=1.000 A=0.000
HapMap African Sub 118 G=1.000 A=0.000
HapMap Asian Sub 88 G=1.00 A=0.00
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 G= A C T
GRCh38.p12 chr 8 NC_000008.11:g.18400367= NC_000008.11:g.18400367G>A NC_000008.11:g.18400367G>C NC_000008.11:g.18400367G>T
GRCh37.p13 chr 8 NC_000008.10:g.18257877= NC_000008.10:g.18257877G>A NC_000008.10:g.18257877G>C NC_000008.10:g.18257877G>T
NAT2 RefSeqGene NG_012246.1:g.14123= NG_012246.1:g.14123G>A NG_012246.1:g.14123G>C NG_012246.1:g.14123G>T
NAT2 transcript NM_000015.3:c.364= NM_000015.3:c.364G>A NM_000015.3:c.364G>C NM_000015.3:c.364G>T
NAT2 transcript NM_000015.2:c.364= NM_000015.2:c.364G>A NM_000015.2:c.364G>C NM_000015.2:c.364G>T
NAT2 transcript variant X1 XM_017012938.1:c.364= XM_017012938.1:c.364G>A XM_017012938.1:c.364G>C XM_017012938.1:c.364G>T
arylamine N-acetyltransferase 2 NP_000006.2:p.Asp122= NP_000006.2:p.Asp122Asn NP_000006.2:p.Asp122His NP_000006.2:p.Asp122Tyr
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Asp122= XP_016868427.1:p.Asp122Asn XP_016868427.1:p.Asp122His XP_016868427.1:p.Asp122Tyr
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#.

14 SubSNP, 8 Frequency submissions
No Submitter Submission ID Date (Build)
1 SNP500CANCER ss5586801 Mar 31, 2003 (113)
2 AFFY ss74812627 Aug 16, 2007 (128)
3 EVA_EXAC ss1689107843 Apr 01, 2015 (144)
4 EVA_EXAC ss1689107844 Apr 01, 2015 (144)
5 ILLUMINA ss1959092401 Feb 12, 2016 (147)
6 ILLUMINA ss2711131669 Nov 08, 2017 (151)
7 GNOMAD ss2737016668 Nov 08, 2017 (151)
8 GNOMAD ss2748005929 Nov 08, 2017 (151)
9 GNOMAD ss2863932587 Nov 08, 2017 (151)
10 ILLUMINA ss3022824451 Nov 08, 2017 (151)
11 TOPMED ss3555514725 Nov 08, 2017 (151)
12 TOPMED ss3555514726 Nov 08, 2017 (151)
13 ILLUMINA ss3653365281 Oct 12, 2018 (152)
14 ILLUMINA ss3726518833 Jul 13, 2019 (153)
15 ExAC

Submission ignored due to conflicting rows:
Row 9201200 (NC_000008.10:18257876:G:G 120592/120604, NC_000008.10:18257876:G:A 12/120604)
Row 9201201 (NC_000008.10:18257876:G:G 120603/120604, NC_000008.10:18257876:G:T 1/120604)

- Oct 12, 2018 (152)
16 ExAC

Submission ignored due to conflicting rows:
Row 9201200 (NC_000008.10:18257876:G:G 120592/120604, NC_000008.10:18257876:G:A 12/120604)
Row 9201201 (NC_000008.10:18257876:G:G 120603/120604, NC_000008.10:18257876:G:T 1/120604)

- Oct 12, 2018 (152)
17 gnomAD - Genomes NC_000008.10 - 18257877 Jul 13, 2019 (153)
18 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 6184603 (NC_000008.10:18257876:G:G 249534/249562, NC_000008.10:18257876:G:A 28/249562)
Row 6184604 (NC_000008.10:18257876:G:G 249561/249562, NC_000008.10:18257876:G:T 1/249562)

- Jul 13, 2019 (153)
19 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 6184603 (NC_000008.10:18257876:G:G 249534/249562, NC_000008.10:18257876:G:A 28/249562)
Row 6184604 (NC_000008.10:18257876:G:G 249561/249562, NC_000008.10:18257876:G:T 1/249562)

- Jul 13, 2019 (153)
20 HapMap NC_000008.11 - 18400367 Apr 26, 2020 (154)
21 TopMed NC_000008.11 - 18400367 Oct 12, 2018 (152)
22 dbGaP Population Frequency Project NC_000008.11 - 18400367 Apr 26, 2020 (154)
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)
rs52822428 Sep 21, 2007 (128)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
111847166, ss1689107843, ss1959092401, ss2711131669, ss2737016668, ss2748005929, ss2863932587, ss3022824451, ss3653365281 NC_000008.10:18257876:G:A NC_000008.11:18400366:G:A (self)
3577446, 363877332, ss3555514725, ss3726518833 NC_000008.11:18400366:G:A NC_000008.11:18400366:G:A (self)
ss5586801, ss74812627 NT_167187.1:6116022:G:A NC_000008.11:18400366:G:A (self)
384382861, 363877332, ss3555514726 NC_000008.11:18400366:G:C NC_000008.11:18400366:G:C (self)
ss1689107844, ss2737016668 NC_000008.10:18257876:G:T NC_000008.11:18400366:G:T (self)
Help

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

2 citations for rs4986996
PMID Title Author Year Journal
18680467 Structure/function evaluations of single nucleotide polymorphisms in human N-acetyltransferase 2. Walraven JM et al. 2008 Current drug metabolism
24944790 Screening for 392 polymorphisms in 141 pharmacogenes. Kim JY et al. 2014 Biomedical reports

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.post502+8584b1c