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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.

rs4987076

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr8:18222492 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.020316 (5103/251186, GnomAD_exome)
A=0.018285 (2296/125568, TOPMED)
A=0.020903 (2536/121324, ExAC) (+ 19 more)
A=0.02500 (2153/86120, ALFA Project)
A=0.00981 (772/78700, PAGE_STUDY)
A=0.0170 (85/5008, 1000G)
A=0.0328 (147/4480, Estonian)
A=0.0171 (66/3854, ALSPAC)
A=0.0165 (61/3708, TWINSUK)
A=0.0041 (12/2920, KOREAN)
A=0.0060 (11/1832, Korea1K)
A=0.0602 (68/1130, Daghestan)
A=0.023 (23/998, GoNL)
A=0.010 (6/614, Vietnamese)
A=0.012 (7/600, NorthernSweden)
A=0.024 (13/534, MGP)
A=0.003 (1/360, PharmGKB)
A=0.012 (4/330, HapMap)
A=0.003 (1/304, FINRISK)
A=0.102 (22/216, Qatari)
G=0.50 (12/24, SGDP_PRJ)
A=0.50 (12/24, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
NAT1 : Missense Variant
Publications
18 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.18222492G>A
GRCh38.p12 chr 8 NC_000008.11:g.18222492G>C
GRCh37.p13 chr 8 NC_000008.10:g.18080001G>A
GRCh37.p13 chr 8 NC_000008.10:g.18080001G>C
NAT1 RefSeqGene NG_012245.2:g.57031G>A
NAT1 RefSeqGene NG_012245.2:g.57031G>C
Gene: NAT1, N-acetyltransferase 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT1 transcript variant 6 NM_001160174.2:c.445G>A V [GTC] > I [ATC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153646.1:p.Val149Ile V (Val) > I (Ile) Missense Variant
NAT1 transcript variant 6 NM_001160174.2:c.445G>C V [GTC] > L [CTC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153646.1:p.Val149Leu V (Val) > L (Leu) Missense Variant
NAT1 transcript variant 4 NM_001160173.3:c.445G>A V [GTC] > I [ATC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153645.1:p.Val149Ile V (Val) > I (Ile) Missense Variant
NAT1 transcript variant 4 NM_001160173.3:c.445G>C V [GTC] > L [CTC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153645.1:p.Val149Leu V (Val) > L (Leu) Missense Variant
NAT1 transcript variant 5 NM_000662.8:c.445G>A V [GTC] > I [ATC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_000653.3:p.Val149Ile V (Val) > I (Ile) Missense Variant
NAT1 transcript variant 5 NM_000662.8:c.445G>C V [GTC] > L [CTC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_000653.3:p.Val149Leu V (Val) > L (Leu) Missense Variant
NAT1 transcript variant 1 NM_001160170.4:c.445G>A V [GTC] > I [ATC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153642.1:p.Val149Ile V (Val) > I (Ile) Missense Variant
NAT1 transcript variant 1 NM_001160170.4:c.445G>C V [GTC] > L [CTC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153642.1:p.Val149Leu V (Val) > L (Leu) Missense Variant
NAT1 transcript variant 8 NM_001160176.4:c.631G>A V [GTC] > I [ATC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001153648.1:p.Val211Ile V (Val) > I (Ile) Missense Variant
NAT1 transcript variant 8 NM_001160176.4:c.631G>C V [GTC] > L [CTC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001153648.1:p.Val211Leu V (Val) > L (Leu) Missense Variant
NAT1 transcript variant 10 NM_001291962.2:c.631G>A V [GTC] > I [ATC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001278891.1:p.Val211Ile V (Val) > I (Ile) Missense Variant
NAT1 transcript variant 10 NM_001291962.2:c.631G>C V [GTC] > L [CTC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001278891.1:p.Val211Leu V (Val) > L (Leu) Missense Variant
NAT1 transcript variant 9 NM_001160179.3:c.445G>A V [GTC] > I [ATC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153651.1:p.Val149Ile V (Val) > I (Ile) Missense Variant
NAT1 transcript variant 9 NM_001160179.3:c.445G>C V [GTC] > L [CTC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153651.1:p.Val149Leu V (Val) > L (Leu) Missense Variant
NAT1 transcript variant 2 NM_001160171.4:c.445G>A V [GTC] > I [ATC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153643.1:p.Val149Ile V (Val) > I (Ile) Missense Variant
NAT1 transcript variant 2 NM_001160171.4:c.445G>C V [GTC] > L [CTC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153643.1:p.Val149Leu V (Val) > L (Leu) Missense Variant
NAT1 transcript variant 7 NM_001160175.4:c.631G>A V [GTC] > I [ATC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001153647.1:p.Val211Ile V (Val) > I (Ile) Missense Variant
NAT1 transcript variant 7 NM_001160175.4:c.631G>C V [GTC] > L [CTC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001153647.1:p.Val211Leu V (Val) > L (Leu) Missense Variant
NAT1 transcript variant 3 NM_001160172.4:c.445G>A V [GTC] > I [ATC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153644.1:p.Val149Ile V (Val) > I (Ile) Missense Variant
NAT1 transcript variant 3 NM_001160172.4:c.445G>C V [GTC] > L [CTC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153644.1:p.Val149Leu V (Val) > L (Leu) Missense Variant
NAT1 transcript variant X2 XM_011544687.1:c.631G>A V [GTC] > I [ATC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_011542989.1:p.Val211Ile V (Val) > I (Ile) Missense Variant
NAT1 transcript variant X2 XM_011544687.1:c.631G>C V [GTC] > L [CTC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_011542989.1:p.Val211Leu V (Val) > L (Leu) Missense Variant
NAT1 transcript variant X1 XM_011544688.1:c.631G>A V [GTC] > I [ATC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_011542990.1:p.Val211Ile V (Val) > I (Ile) Missense Variant
NAT1 transcript variant X1 XM_011544688.1:c.631G>C V [GTC] > L [CTC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_011542990.1:p.Val211Leu V (Val) > L (Leu) Missense Variant
NAT1 transcript variant X3 XM_017013947.1:c.631G>A V [GTC] > I [ATC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_016869436.1:p.Val211Ile V (Val) > I (Ile) Missense Variant
NAT1 transcript variant X3 XM_017013947.1:c.631G>C V [GTC] > L [CTC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_016869436.1:p.Val211Leu V (Val) > L (Leu) Missense Variant
NAT1 transcript variant X4 XM_006716410.3:c.445G>A V [GTC] > I [ATC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X2 XP_006716473.1:p.Val149Ile V (Val) > I (Ile) Missense Variant
NAT1 transcript variant X4 XM_006716410.3:c.445G>C V [GTC] > L [CTC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X2 XP_006716473.1:p.Val149Leu V (Val) > L (Leu) Missense Variant
NAT1 transcript variant X5 XM_011544689.2:c.445G>A V [GTC] > I [ATC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X2 XP_011542991.1:p.Val149Ile V (Val) > I (Ile) Missense Variant
NAT1 transcript variant X5 XM_011544689.2:c.445G>C V [GTC] > L [CTC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X2 XP_011542991.1:p.Val149Leu V (Val) > L (Leu) 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.

Allele: A (allele ID: 32847 )
ClinVar Accession Disease Names Clinical Significance
RCV000019386.28 NAT1*17 ALLELE Other
RCV000455973.1 not specified Benign

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 230898 G=0.975539 A=0.024461, C=0.000000
European Sub 196762 G=0.974248 A=0.025752, C=0.000000
African Sub 9688 G=0.9954 A=0.0046, C=0.0000
African Others Sub 334 G=1.000 A=0.000, C=0.000
African American Sub 9354 G=0.9952 A=0.0048, C=0.0000
Asian Sub 3754 G=0.9904 A=0.0096, C=0.0000
East Asian Sub 3056 G=0.9948 A=0.0052, C=0.0000
Other Asian Sub 698 G=0.971 A=0.029, C=0.000
Latin American 1 Sub 1230 G=0.9821 A=0.0179, C=0.0000
Latin American 2 Sub 5316 G=0.9889 A=0.0111, C=0.0000
South Asian Sub 358 G=0.978 A=0.022, C=0.000
Other Sub 13790 G=0.97020 A=0.02980, C=0.00000


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
gnomAD - Exomes Global Study-wide 251186 G=0.979684 A=0.020316
gnomAD - Exomes European Sub 135180 G=0.977341 A=0.022659
gnomAD - Exomes Asian Sub 49000 G=0.97984 A=0.02016
gnomAD - Exomes American Sub 34554 G=0.98889 A=0.01111
gnomAD - Exomes African Sub 16254 G=0.99625 A=0.00375
gnomAD - Exomes Ashkenazi Jewish Sub 10074 G=0.95732 A=0.04268
gnomAD - Exomes Other Sub 6124 G=0.9711 A=0.0289
TopMed Global Study-wide 125568 G=0.981715 A=0.018285
ExAC Global Study-wide 121324 G=0.979097 A=0.020903
ExAC Europe Sub 73330 G=0.97532 A=0.02468
ExAC Asian Sub 25154 G=0.97849 A=0.02151
ExAC American Sub 11532 G=0.98968 A=0.01032
ExAC African Sub 10400 G=0.99644 A=0.00356
ExAC Other Sub 908 G=0.968 A=0.032
ALFA Total Global 86120 G=0.97500 A=0.02500
ALFA European Sub 72906 G=0.97329 A=0.02671
ALFA African Sub 4830 G=0.9921 A=0.0079
ALFA Latin American 2 Sub 4110 G=0.9883 A=0.0117
ALFA Other Sub 3682 G=0.9707 A=0.0293
ALFA Latin American 1 Sub 408 G=0.980 A=0.020
ALFA Asian Sub 124 G=0.976 A=0.024
ALFA South Asian Sub 60 G=0.98 A=0.02
The PAGE Study Global Study-wide 78700 G=0.99019 A=0.00981
The PAGE Study AfricanAmerican Sub 32514 G=0.99514 A=0.00486
The PAGE Study Mexican Sub 10810 G=0.98307 A=0.01693
The PAGE Study Asian Sub 8318 G=0.9950 A=0.0050
The PAGE Study PuertoRican Sub 7918 G=0.9857 A=0.0143
The PAGE Study NativeHawaiian Sub 4534 G=0.9899 A=0.0101
The PAGE Study Cuban Sub 4230 G=0.9787 A=0.0213
The PAGE Study Dominican Sub 3828 G=0.9906 A=0.0094
The PAGE Study CentralAmerican Sub 2450 G=0.9861 A=0.0139
The PAGE Study SouthAmerican Sub 1982 G=0.9849 A=0.0151
The PAGE Study NativeAmerican Sub 1260 G=0.9857 A=0.0143
The PAGE Study SouthAsian Sub 856 G=0.974 A=0.026
1000Genomes Global Study-wide 5008 G=0.9830 A=0.0170
1000Genomes African Sub 1322 G=0.9970 A=0.0030
1000Genomes East Asian Sub 1008 G=0.9940 A=0.0060
1000Genomes Europe Sub 1006 G=0.9742 A=0.0258
1000Genomes South Asian Sub 978 G=0.959 A=0.041
1000Genomes American Sub 694 G=0.987 A=0.013
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9672 A=0.0328
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9829 A=0.0171
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9835 A=0.0165
KOREAN population from KRGDB KOREAN Study-wide 2920 G=0.9959 A=0.0041
Korean Genome Project KOREAN Study-wide 1832 G=0.9940 A=0.0060
Genome-wide autozygosity in Daghestan Global Study-wide 1130 G=0.9398 A=0.0602
Genome-wide autozygosity in Daghestan Daghestan Sub 626 G=0.941 A=0.059
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=0.910 A=0.090
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.967 A=0.033
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.972 A=0.028
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.97 A=0.03
Genome-wide autozygosity in Daghestan Caucasus Sub 32 G=0.75 A=0.25
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.977 A=0.023
A Vietnamese Genetic Variation Database Global Study-wide 614 G=0.990 A=0.010
Northern Sweden ACPOP Study-wide 600 G=0.988 A=0.012
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.976 A=0.024
PharmGKB Aggregated Global Study-wide 360 G=0.997 A=0.003
PharmGKB Aggregated PA147980922 Sub 360 G=0.997 A=0.003
HapMap Global Study-wide 330 G=0.988 A=0.012
HapMap African Sub 120 G=0.992 A=0.008
HapMap American Sub 120 G=0.975 A=0.025
HapMap Asian Sub 90 G=1.00 A=0.00
FINRISK Finnish from FINRISK project Study-wide 304 G=0.997 A=0.003
Qatari Global Study-wide 216 G=0.898 A=0.102
SGDP_PRJ Global Study-wide 24 G=0.50 A=0.50
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
GRCh38.p12 chr 8 NC_000008.11:g.18222492= NC_000008.11:g.18222492G>A NC_000008.11:g.18222492G>C
GRCh37.p13 chr 8 NC_000008.10:g.18080001= NC_000008.10:g.18080001G>A NC_000008.10:g.18080001G>C
NAT1 RefSeqGene NG_012245.2:g.57031= NG_012245.2:g.57031G>A NG_012245.2:g.57031G>C
NAT1 transcript variant 5 NM_000662.8:c.445= NM_000662.8:c.445G>A NM_000662.8:c.445G>C
NAT1 transcript variant 5 NM_000662.7:c.445= NM_000662.7:c.445G>A NM_000662.7:c.445G>C
NAT1 transcript variant 5 NM_000662.5:c.445= NM_000662.5:c.445G>A NM_000662.5:c.445G>C
NAT1 transcript variant 1 NM_001160170.4:c.445= NM_001160170.4:c.445G>A NM_001160170.4:c.445G>C
NAT1 transcript variant 1 NM_001160170.3:c.445= NM_001160170.3:c.445G>A NM_001160170.3:c.445G>C
NAT1 transcript variant 1 NM_001160170.1:c.445= NM_001160170.1:c.445G>A NM_001160170.1:c.445G>C
NAT1 transcript variant 2 NM_001160171.4:c.445= NM_001160171.4:c.445G>A NM_001160171.4:c.445G>C
NAT1 transcript variant 2 NM_001160171.3:c.445= NM_001160171.3:c.445G>A NM_001160171.3:c.445G>C
NAT1 transcript variant 2 NM_001160171.1:c.445= NM_001160171.1:c.445G>A NM_001160171.1:c.445G>C
NAT1 transcript variant 3 NM_001160172.4:c.445= NM_001160172.4:c.445G>A NM_001160172.4:c.445G>C
NAT1 transcript variant 3 NM_001160172.3:c.445= NM_001160172.3:c.445G>A NM_001160172.3:c.445G>C
NAT1 transcript variant 3 NM_001160172.1:c.445= NM_001160172.1:c.445G>A NM_001160172.1:c.445G>C
NAT1 transcript variant 7 NM_001160175.4:c.631= NM_001160175.4:c.631G>A NM_001160175.4:c.631G>C
NAT1 transcript variant 7 NM_001160175.3:c.631= NM_001160175.3:c.631G>A NM_001160175.3:c.631G>C
NAT1 transcript variant 7 NM_001160175.1:c.631= NM_001160175.1:c.631G>A NM_001160175.1:c.631G>C
NAT1 transcript variant 8 NM_001160176.4:c.631= NM_001160176.4:c.631G>A NM_001160176.4:c.631G>C
NAT1 transcript variant 8 NM_001160176.3:c.631= NM_001160176.3:c.631G>A NM_001160176.3:c.631G>C
NAT1 transcript variant 8 NM_001160176.1:c.631= NM_001160176.1:c.631G>A NM_001160176.1:c.631G>C
NAT1 transcript variant 9 NM_001160179.3:c.445= NM_001160179.3:c.445G>A NM_001160179.3:c.445G>C
NAT1 transcript variant 9 NM_001160179.2:c.445= NM_001160179.2:c.445G>A NM_001160179.2:c.445G>C
NAT1 transcript variant 9 NM_001160179.1:c.445= NM_001160179.1:c.445G>A NM_001160179.1:c.445G>C
NAT1 transcript variant 4 NM_001160173.3:c.445= NM_001160173.3:c.445G>A NM_001160173.3:c.445G>C
NAT1 transcript variant 4 NM_001160173.1:c.445= NM_001160173.1:c.445G>A NM_001160173.1:c.445G>C
NAT1 transcript variant 10 NM_001291962.2:c.631= NM_001291962.2:c.631G>A NM_001291962.2:c.631G>C
NAT1 transcript variant 10 NM_001291962.1:c.631= NM_001291962.1:c.631G>A NM_001291962.1:c.631G>C
NAT1 transcript variant 6 NM_001160174.2:c.445= NM_001160174.2:c.445G>A NM_001160174.2:c.445G>C
NAT1 transcript variant 6 NM_001160174.1:c.445= NM_001160174.1:c.445G>A NM_001160174.1:c.445G>C
NAT1 transcript variant X4 XM_006716410.3:c.445= XM_006716410.3:c.445G>A XM_006716410.3:c.445G>C
NAT1 transcript variant X5 XM_011544689.2:c.445= XM_011544689.2:c.445G>A XM_011544689.2:c.445G>C
NAT1 transcript variant X3 XM_017013947.1:c.631= XM_017013947.1:c.631G>A XM_017013947.1:c.631G>C
NAT1 transcript variant X2 XM_011544687.1:c.631= XM_011544687.1:c.631G>A XM_011544687.1:c.631G>C
NAT1 transcript variant X1 XM_011544688.1:c.631= XM_011544688.1:c.631G>A XM_011544688.1:c.631G>C
arylamine N-acetyltransferase 1 isoform a NP_000653.3:p.Val149= NP_000653.3:p.Val149Ile NP_000653.3:p.Val149Leu
arylamine N-acetyltransferase 1 isoform a NP_001153642.1:p.Val149= NP_001153642.1:p.Val149Ile NP_001153642.1:p.Val149Leu
arylamine N-acetyltransferase 1 isoform a NP_001153643.1:p.Val149= NP_001153643.1:p.Val149Ile NP_001153643.1:p.Val149Leu
arylamine N-acetyltransferase 1 isoform a NP_001153644.1:p.Val149= NP_001153644.1:p.Val149Ile NP_001153644.1:p.Val149Leu
arylamine N-acetyltransferase 1 isoform b NP_001153647.1:p.Val211= NP_001153647.1:p.Val211Ile NP_001153647.1:p.Val211Leu
arylamine N-acetyltransferase 1 isoform b NP_001153648.1:p.Val211= NP_001153648.1:p.Val211Ile NP_001153648.1:p.Val211Leu
arylamine N-acetyltransferase 1 isoform a NP_001153651.1:p.Val149= NP_001153651.1:p.Val149Ile NP_001153651.1:p.Val149Leu
arylamine N-acetyltransferase 1 isoform a NP_001153645.1:p.Val149= NP_001153645.1:p.Val149Ile NP_001153645.1:p.Val149Leu
arylamine N-acetyltransferase 1 isoform b NP_001278891.1:p.Val211= NP_001278891.1:p.Val211Ile NP_001278891.1:p.Val211Leu
arylamine N-acetyltransferase 1 isoform a NP_001153646.1:p.Val149= NP_001153646.1:p.Val149Ile NP_001153646.1:p.Val149Leu
arylamine N-acetyltransferase 1 isoform X2 XP_006716473.1:p.Val149= XP_006716473.1:p.Val149Ile XP_006716473.1:p.Val149Leu
arylamine N-acetyltransferase 1 isoform X2 XP_011542991.1:p.Val149= XP_011542991.1:p.Val149Ile XP_011542991.1:p.Val149Leu
arylamine N-acetyltransferase 1 isoform X1 XP_016869436.1:p.Val211= XP_016869436.1:p.Val211Ile XP_016869436.1:p.Val211Leu
arylamine N-acetyltransferase 1 isoform X1 XP_011542989.1:p.Val211= XP_011542989.1:p.Val211Ile XP_011542989.1:p.Val211Leu
arylamine N-acetyltransferase 1 isoform X1 XP_011542990.1:p.Val211= XP_011542990.1:p.Val211Ile XP_011542990.1:p.Val211Leu
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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#.

84 SubSNP, 23 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SNP500CANCER ss5606338 Mar 31, 2003 (113)
2 PERLEGEN ss24180117 Sep 20, 2004 (123)
3 EGP_SNPS ss32478880 May 24, 2005 (125)
4 CSHL-HAPMAP ss68384565 Jan 12, 2007 (127)
5 PERLEGEN ss69042330 May 16, 2007 (127)
6 AFFY ss74815113 Aug 16, 2007 (128)
7 PHARMGKB_AB_DME ss84168378 Dec 15, 2007 (130)
8 ILLUMINA ss160735795 Dec 01, 2009 (131)
9 1000GENOMES ss234344889 Jul 15, 2010 (132)
10 OMICIA ss275516215 Nov 30, 2010 (133)
11 OMIM-CURATED-RECORDS ss295469778 Jan 27, 2011 (133)
12 NHLBI-ESP ss342253582 May 09, 2011 (134)
13 ILLUMINA ss482137059 Sep 08, 2015 (146)
14 ILLUMINA ss483577511 May 04, 2012 (137)
15 ILLUMINA ss485580349 May 04, 2012 (137)
16 1000GENOMES ss490960706 May 04, 2012 (137)
17 EXOME_CHIP ss491410740 May 04, 2012 (137)
18 CLINSEQ_SNP ss491921827 May 04, 2012 (137)
19 ILLUMINA ss535783336 Sep 08, 2015 (146)
20 SSMP ss655023159 Apr 25, 2013 (138)
21 ILLUMINA ss779510925 Sep 08, 2015 (146)
22 ILLUMINA ss780867810 Sep 08, 2015 (146)
23 ILLUMINA ss782232196 Sep 08, 2015 (146)
24 ILLUMINA ss783552741 Sep 08, 2015 (146)
25 ILLUMINA ss834981285 Sep 08, 2015 (146)
26 EVA-GONL ss985254176 Aug 21, 2014 (142)
27 JMKIDD_LAB ss1067495855 Aug 21, 2014 (142)
28 JMKIDD_LAB ss1075324498 Aug 21, 2014 (142)
29 1000GENOMES ss1328847111 Aug 21, 2014 (142)
30 HAMMER_LAB ss1397519346 Sep 08, 2015 (146)
31 DDI ss1431435947 Apr 01, 2015 (144)
32 EVA_FINRISK ss1584057280 Apr 01, 2015 (144)
33 EVA_DECODE ss1594843094 Apr 01, 2015 (144)
34 EVA_UK10K_ALSPAC ss1620096454 Apr 01, 2015 (144)
35 EVA_UK10K_TWINSUK ss1663090487 Apr 01, 2015 (144)
36 EVA_EXAC ss1689107659 Apr 01, 2015 (144)
37 EVA_MGP ss1711194375 Apr 01, 2015 (144)
38 WEILL_CORNELL_DGM ss1928543852 Feb 12, 2016 (147)
39 ILLUMINA ss1946231048 Feb 12, 2016 (147)
40 ILLUMINA ss1959092244 Feb 12, 2016 (147)
41 JJLAB ss2024970096 Sep 14, 2016 (149)
42 HUMAN_LONGEVITY ss2301150659 Dec 20, 2016 (150)
43 TOPMED ss2470808513 Dec 20, 2016 (150)
44 TOPMED ss2470808514 Dec 20, 2016 (150)
45 ILLUMINA ss2634717598 Nov 08, 2017 (151)
46 ILLUMINA ss2634717599 Nov 08, 2017 (151)
47 ILLUMINA ss2634717600 Nov 08, 2017 (151)
48 ILLUMINA ss2634717601 Nov 08, 2017 (151)
49 GRF ss2708952062 Nov 08, 2017 (151)
50 ILLUMINA ss2711131555 Nov 08, 2017 (151)
51 GNOMAD ss2737016404 Nov 08, 2017 (151)
52 GNOMAD ss2748005857 Nov 08, 2017 (151)
53 GNOMAD ss2863915032 Nov 08, 2017 (151)
54 AFFY ss2985432567 Nov 08, 2017 (151)
55 AFFY ss2986074621 Nov 08, 2017 (151)
56 SWEGEN ss3002777603 Nov 08, 2017 (151)
57 ILLUMINA ss3022824287 Nov 08, 2017 (151)
58 TOPMED ss3555475114 Nov 08, 2017 (151)
59 TOPMED ss3555475115 Nov 08, 2017 (151)
60 ILLUMINA ss3625946887 Oct 12, 2018 (152)
61 ILLUMINA ss3630009293 Oct 12, 2018 (152)
62 ILLUMINA ss3630009294 Oct 12, 2018 (152)
63 ILLUMINA ss3632618293 Oct 12, 2018 (152)
64 ILLUMINA ss3635161152 Oct 12, 2018 (152)
65 ILLUMINA ss3636897916 Oct 12, 2018 (152)
66 ILLUMINA ss3640868442 Oct 12, 2018 (152)
67 ILLUMINA ss3644964224 Oct 12, 2018 (152)
68 OMUKHERJEE_ADBS ss3646372853 Oct 12, 2018 (152)
69 ILLUMINA ss3653365109 Oct 12, 2018 (152)
70 ILLUMINA ss3654194354 Oct 12, 2018 (152)
71 EGCUT_WGS ss3670456202 Jul 13, 2019 (153)
72 EVA_DECODE ss3721523292 Jul 13, 2019 (153)
73 ILLUMINA ss3726518686 Jul 13, 2019 (153)
74 ACPOP ss3735451681 Jul 13, 2019 (153)
75 ILLUMINA ss3744302540 Jul 13, 2019 (153)
76 ILLUMINA ss3745460945 Jul 13, 2019 (153)
77 EVA ss3767696006 Jul 13, 2019 (153)
78 PAGE_CC ss3771427359 Jul 13, 2019 (153)
79 KHV_HUMAN_GENOMES ss3810859208 Jul 13, 2019 (153)
80 EVA ss3824350584 Apr 26, 2020 (154)
81 EVA ss3825736870 Apr 26, 2020 (154)
82 SGDP_PRJ ss3869401317 Apr 26, 2020 (154)
83 KRGDB ss3916826277 Apr 26, 2020 (154)
84 KOGIC ss3963372439 Apr 26, 2020 (154)
85 1000Genomes NC_000008.10 - 18080001 Oct 12, 2018 (152)
86 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 18080001 Oct 12, 2018 (152)
87 Genome-wide autozygosity in Daghestan NC_000008.9 - 18124281 Apr 26, 2020 (154)
88 Genetic variation in the Estonian population NC_000008.10 - 18080001 Oct 12, 2018 (152)
89 ExAC NC_000008.10 - 18080001 Oct 12, 2018 (152)
90 FINRISK NC_000008.10 - 18080001 Apr 26, 2020 (154)
91 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 111829279 (NC_000008.10:18080000:G:G 30817/31390, NC_000008.10:18080000:G:A 573/31390)
Row 111829280 (NC_000008.10:18080000:G:G 31389/31390, NC_000008.10:18080000:G:C 1/31390)

- Jul 13, 2019 (153)
92 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 111829279 (NC_000008.10:18080000:G:G 30817/31390, NC_000008.10:18080000:G:A 573/31390)
Row 111829280 (NC_000008.10:18080000:G:G 31389/31390, NC_000008.10:18080000:G:C 1/31390)

- Jul 13, 2019 (153)
93 gnomAD - Exomes NC_000008.10 - 18080001 Jul 13, 2019 (153)
94 Genome of the Netherlands Release 5 NC_000008.10 - 18080001 Apr 26, 2020 (154)
95 HapMap NC_000008.11 - 18222492 Apr 26, 2020 (154)
96 KOREAN population from KRGDB NC_000008.10 - 18080001 Apr 26, 2020 (154)
97 Korean Genome Project NC_000008.11 - 18222492 Apr 26, 2020 (154)
98 Medical Genome Project healthy controls from Spanish population NC_000008.10 - 18080001 Apr 26, 2020 (154)
99 Northern Sweden NC_000008.10 - 18080001 Jul 13, 2019 (153)
100 The PAGE Study NC_000008.11 - 18222492 Jul 13, 2019 (153)
101 PharmGKB Aggregated NC_000008.11 - 18222492 Apr 26, 2020 (154)
102 Qatari NC_000008.10 - 18080001 Apr 26, 2020 (154)
103 SGDP_PRJ NC_000008.10 - 18080001 Apr 26, 2020 (154)
104 TopMed NC_000008.11 - 18222492 Oct 12, 2018 (152)
105 UK 10K study - Twins NC_000008.10 - 18080001 Oct 12, 2018 (152)
106 A Vietnamese Genetic Variation Database NC_000008.10 - 18080001 Jul 13, 2019 (153)
107 dbGaP Population Frequency Project NC_000008.11 - 18222492 Apr 26, 2020 (154)
108 ClinVar RCV000019386.28 Oct 12, 2018 (152)
109 ClinVar RCV000455973.1 Oct 12, 2018 (152)
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)
rs17642069 Oct 08, 2004 (123)
rs52790966 Sep 21, 2007 (128)
rs59667199 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
493251, ss485580349, ss491921827, ss1397519346, ss1594843094 NC_000008.9:18124280:G:A NC_000008.11:18222491:G:A (self)
40940094, 22757060, 16194450, 9201004, 53741, 6184310, 10168790, 24003671, 310135, 8736546, 10585782, 21418297, 22757060, 5073559, ss234344889, ss342253582, ss482137059, ss483577511, ss490960706, ss491410740, ss535783336, ss655023159, ss779510925, ss780867810, ss782232196, ss783552741, ss834981285, ss985254176, ss1067495855, ss1075324498, ss1328847111, ss1431435947, ss1584057280, ss1620096454, ss1663090487, ss1689107659, ss1711194375, ss1928543852, ss1946231048, ss1959092244, ss2024970096, ss2470808513, ss2634717598, ss2634717599, ss2634717600, ss2634717601, ss2708952062, ss2711131555, ss2737016404, ss2748005857, ss2863915032, ss2985432567, ss2986074621, ss3002777603, ss3022824287, ss3625946887, ss3630009293, ss3630009294, ss3632618293, ss3635161152, ss3636897916, ss3640868442, ss3644964224, ss3646372853, ss3653365109, ss3654194354, ss3670456202, ss3735451681, ss3744302540, ss3745460945, ss3767696006, ss3824350584, ss3825736870, ss3869401317, ss3916826277 NC_000008.10:18080000:G:A NC_000008.11:18222491:G:A (self)
RCV000019386.28, RCV000455973.1, 3577050, 19750440, 648828, 12427, 384349508, 659911288, ss275516215, ss295469778, ss2301150659, ss3555475114, ss3721523292, ss3726518686, ss3771427359, ss3810859208, ss3963372439 NC_000008.11:18222491:G:A NC_000008.11:18222491:G:A (self)
ss5606338, ss24180117, ss32478880, ss68384565, ss69042330, ss74815113, ss84168378, ss160735795 NT_167187.1:5938146:G:A NC_000008.11:18222491:G:A (self)
ss2470808514, ss2748005857, ss2863915032 NC_000008.10:18080000:G:C NC_000008.11:18222491:G:C (self)
ss3555475115 NC_000008.11:18222491:G:C NC_000008.11:18222491:G:C (self)
Help

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

18 citations for rs4987076
PMID Title Author Year Journal
9168895 Identification of a novel allele at the human NAT1 acetyltransferase locus. Doll MA et al. 1997 Biochemical and biophysical research communications
16112301 NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the Spanish Bladder Cancer Study and meta-analyses. GarcĂ­a-Closas M et al. 2005 Lancet (London, England)
16416399 Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes. Patin E et al. 2006 American journal of human genetics
16847422 Genetic variation in N-acetyltransferase 1 (NAT1) and 2 (NAT2) and risk of non-Hodgkin lymphoma. Morton LM et al. 2006 Pharmacogenetics and genomics
19809881 Genetic variation in N-acetyltransferases 1 and 2, cigarette smoking, and risk of non-Hodgkin lymphoma. Kilfoy BA et al. 2010 Cancer causes & control
19822571 Genetic variations in xenobiotic metabolic pathway genes, personal hair dye use, and risk of non-Hodgkin lymphoma. Zhang Y et al. 2009 American journal of epidemiology
20029944 Genetic polymorphisms in the metabolic pathway and non-Hodgkin lymphoma survival. Han X et al. 2010 American journal of hematology
20131310 Genetic polymorphisms in cytochrome P450s, GSTs, NATs, alcohol consumption and risk of non-Hodgkin lymphoma. Li Y et al. 2010 American journal of hematology
21290563 Functional effects of genetic polymorphisms in the N-acetyltransferase 1 coding and 3' untranslated regions. Zhu Y et al. 2011 Birth defects research. Part A, Clinical and molecular teratology
21678399 Hair dye use and risk of bladder cancer in the New England bladder cancer study. Koutros S et al. 2011 International journal of cancer
21709725 No association between variant N-acetyltransferase genes, cigarette smoking and Prostate Cancer susceptibility among men of African descent. Kidd LC et al. 2011 Biomarkers in cancer
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
22301281 Genetic variants in carcinogen-metabolizing enzymes, cigarette smoking and pancreatic cancer risk. Jang JH et al. 2012 Carcinogenesis
22424094 Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: a case control study. Potts LF et al. 2012 BMC medical genetics
22645715 Xenobiotic metabolizing gene variants and renal cell cancer: a multicenter study. Heck JE et al. 2012 Frontiers in oncology
24033266 A systematic approach to assessing the clinical significance of genetic variants. Duzkale H et al. 2013 Clinical genetics
25333069 Disease variants in genomes of 44 centenarians. Freudenberg-Hua Y et al. 2014 Molecular genetics & genomic medicine
26803317 Passive rGE or Developmental Gene-Environment Cascade? An Investigation of the Role of Xenobiotic Metabolism Genes in the Association Between Smoke Exposure During Pregnancy and Child Birth Weight. Marceau K et al. 2016 Behavior genetics
Help

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