Name: rs778732687
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.

rs778732687

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr8:18222636 (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: C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.000014 (2/140224, GnomAD)
G=0.00000 (0/14418, ALFA)
T=0.00000 (0/14418, ALFA) (+ 4 more)
G=0.0003 (1/3854, ALSPAC)
G=0.0000 (0/3708, TWINSUK)
T=0.0003 (1/2922, KOREAN)
G=0.003 (1/304, FINRISK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NAT1 : Stop Gained
Publications: 0 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	14418	C=1.00000	G=0.00000, T=0.00000
European	Sub	9822	C=1.0000	G=0.0000, T=0.0000
African	Sub	2946	C=1.0000	G=0.0000, T=0.0000
African Others	Sub	114	C=1.000	G=0.000, T=0.000
African American	Sub	2832	C=1.0000	G=0.0000, T=0.0000
Asian	Sub	112	C=1.000	G=0.000, T=0.000
East Asian	Sub	86	C=1.00	G=0.00, T=0.00
Other Asian	Sub	26	C=1.00	G=0.00, T=0.00
Latin American 1	Sub	146	C=1.000	G=0.000, T=0.000
Latin American 2	Sub	610	C=1.000	G=0.000, T=0.000
South Asian	Sub	98	C=1.00	G=0.00, T=0.00
Other	Sub	684	C=1.000	G=0.000, T=0.000

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
gnomAD - Genomes	Global	Study-wide	140224	C=0.999986	G=0.000014
gnomAD - Genomes	European	Sub	75932	C=0.99999	G=0.00001
gnomAD - Genomes	African	Sub	42026	C=1.00000	G=0.00000
gnomAD - Genomes	American	Sub	13658	C=0.99993	G=0.00007
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=1.0000	G=0.0000
gnomAD - Genomes	East Asian	Sub	3132	C=1.0000	G=0.0000
gnomAD - Genomes	Other	Sub	2154	C=1.0000	G=0.0000
Allele Frequency Aggregator	Total	Global	14418	C=1.00000	G=0.00000, T=0.00000
Allele Frequency Aggregator	European	Sub	9822	C=1.0000	G=0.0000, T=0.0000
Allele Frequency Aggregator	African	Sub	2946	C=1.0000	G=0.0000, T=0.0000
Allele Frequency Aggregator	Other	Sub	684	C=1.000	G=0.000, T=0.000
Allele Frequency Aggregator	Latin American 2	Sub	610	C=1.000	G=0.000, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	C=1.000	G=0.000, T=0.000
Allele Frequency Aggregator	Asian	Sub	112	C=1.000	G=0.000, T=0.000
Allele Frequency Aggregator	South Asian	Sub	98	C=1.00	G=0.00, T=0.00
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9997	G=0.0003
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=1.0000	G=0.0000
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=0.9997	T=0.0003
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.997	G=0.003

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 8	NC_000008.11:g.18222636C>G
GRCh38.p14 chr 8	NC_000008.11:g.18222636C>T
GRCh37.p13 chr 8	NC_000008.10:g.18080145C>G
GRCh37.p13 chr 8	NC_000008.10:g.18080145C>T
NAT1 RefSeqGene	NG_012245.2:g.57175C>G
NAT1 RefSeqGene	NG_012245.2:g.57175C>T

Gene: NAT1, N-acetyltransferase 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NAT1 transcript variant 5	NM_000662.8:c.589C>G	R [CGA] > G [GGA]	Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a	NP_000653.3:p.Arg197Gly	R (Arg) > G (Gly)	Missense Variant
NAT1 transcript variant 5	NM_000662.8:c.589C>T	R [CGA] > * [TGA]	Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a	NP_000653.3:p.Arg197Ter	R (Arg) > * (Ter)	Stop Gained
NAT1 transcript variant 1	NM_001160170.4:c.589C>G	R [CGA] > G [GGA]	Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a	NP_001153642.1:p.Arg197Gly	R (Arg) > G (Gly)	Missense Variant
NAT1 transcript variant 1	NM_001160170.4:c.589C>T	R [CGA] > * [TGA]	Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a	NP_001153642.1:p.Arg197Ter	R (Arg) > * (Ter)	Stop Gained
NAT1 transcript variant 8	NM_001160176.4:c.775C>G	R [CGA] > G [GGA]	Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b	NP_001153648.1:p.Arg259Gly	R (Arg) > G (Gly)	Missense Variant
NAT1 transcript variant 8	NM_001160176.4:c.775C>T	R [CGA] > * [TGA]	Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b	NP_001153648.1:p.Arg259Ter	R (Arg) > * (Ter)	Stop Gained
NAT1 transcript variant 10	NM_001291962.2:c.775C>G	R [CGA] > G [GGA]	Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b	NP_001278891.1:p.Arg259Gly	R (Arg) > G (Gly)	Missense Variant
NAT1 transcript variant 10	NM_001291962.2:c.775C>T	R [CGA] > * [TGA]	Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b	NP_001278891.1:p.Arg259Ter	R (Arg) > * (Ter)	Stop Gained
NAT1 transcript variant 9	NM_001160179.3:c.589C>G	R [CGA] > G [GGA]	Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a	NP_001153651.1:p.Arg197Gly	R (Arg) > G (Gly)	Missense Variant
NAT1 transcript variant 9	NM_001160179.3:c.589C>T	R [CGA] > * [TGA]	Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a	NP_001153651.1:p.Arg197Ter	R (Arg) > * (Ter)	Stop Gained
NAT1 transcript variant 2	NM_001160171.4:c.589C>G	R [CGA] > G [GGA]	Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a	NP_001153643.1:p.Arg197Gly	R (Arg) > G (Gly)	Missense Variant
NAT1 transcript variant 2	NM_001160171.4:c.589C>T	R [CGA] > * [TGA]	Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a	NP_001153643.1:p.Arg197Ter	R (Arg) > * (Ter)	Stop Gained
NAT1 transcript variant 7	NM_001160175.4:c.775C>G	R [CGA] > G [GGA]	Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b	NP_001153647.1:p.Arg259Gly	R (Arg) > G (Gly)	Missense Variant
NAT1 transcript variant 7	NM_001160175.4:c.775C>T	R [CGA] > * [TGA]	Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b	NP_001153647.1:p.Arg259Ter	R (Arg) > * (Ter)	Stop Gained
NAT1 transcript variant 3	NM_001160172.4:c.589C>G	R [CGA] > G [GGA]	Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a	NP_001153644.1:p.Arg197Gly	R (Arg) > G (Gly)	Missense Variant
NAT1 transcript variant 3	NM_001160172.4:c.589C>T	R [CGA] > * [TGA]	Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a	NP_001153644.1:p.Arg197Ter	R (Arg) > * (Ter)	Stop Gained
NAT1 transcript variant 4	NM_001160173.4:c.589C>G	R [CGA] > G [GGA]	Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a	NP_001153645.1:p.Arg197Gly	R (Arg) > G (Gly)	Missense Variant
NAT1 transcript variant 4	NM_001160173.4:c.589C>T	R [CGA] > * [TGA]	Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a	NP_001153645.1:p.Arg197Ter	R (Arg) > * (Ter)	Stop Gained
NAT1 transcript variant 6	NM_001160174.3:c.589C>G	R [CGA] > G [GGA]	Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a	NP_001153646.1:p.Arg197Gly	R (Arg) > G (Gly)	Missense Variant
NAT1 transcript variant 6	NM_001160174.3:c.589C>T	R [CGA] > * [TGA]	Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a	NP_001153646.1:p.Arg197Ter	R (Arg) > * (Ter)	Stop Gained
NAT1 transcript variant X1	XM_047422397.1:c.775C>G	R [CGA] > G [GGA]	Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1	XP_047278353.1:p.Arg259Gly	R (Arg) > G (Gly)	Missense Variant
NAT1 transcript variant X1	XM_047422397.1:c.775C>T	R [CGA] > * [TGA]	Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1	XP_047278353.1:p.Arg259Ter	R (Arg) > * (Ter)	Stop Gained
NAT1 transcript variant X2	XM_047422398.1:c.775C>G	R [CGA] > G [GGA]	Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1	XP_047278354.1:p.Arg259Gly	R (Arg) > G (Gly)	Missense Variant
NAT1 transcript variant X2	XM_047422398.1:c.775C>T	R [CGA] > * [TGA]	Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1	XP_047278354.1:p.Arg259Ter	R (Arg) > * (Ter)	Stop Gained
NAT1 transcript variant X3	XM_047422399.1:c.589C>G	R [CGA] > G [GGA]	Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X2	XP_047278355.1:p.Arg197Gly	R (Arg) > G (Gly)	Missense Variant
NAT1 transcript variant X3	XM_047422399.1:c.589C>T	R [CGA] > * [TGA]	Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X2	XP_047278355.1:p.Arg197Ter	R (Arg) > * (Ter)	Stop Gained
NAT1 transcript variant X4	XM_006716410.4:c.589C>G	R [CGA] > G [GGA]	Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X2	XP_006716473.1:p.Arg197Gly	R (Arg) > G (Gly)	Missense Variant
NAT1 transcript variant X4	XM_006716410.4:c.589C>T	R [CGA] > * [TGA]	Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X2	XP_006716473.1:p.Arg197Ter	R (Arg) > * (Ter)	Stop Gained
NAT1 transcript variant X5	XM_011544689.3:c.589C>G	R [CGA] > G [GGA]	Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X2	XP_011542991.1:p.Arg197Gly	R (Arg) > G (Gly)	Missense Variant
NAT1 transcript variant X5	XM_011544689.3:c.589C>T	R [CGA] > * [TGA]	Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X2	XP_011542991.1:p.Arg197Ter	R (Arg) > * (Ter)	Stop Gained

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	C=	G	T
GRCh38.p14 chr 8	NC_000008.11:g.18222636=	NC_000008.11:g.18222636C>G	NC_000008.11:g.18222636C>T
GRCh37.p13 chr 8	NC_000008.10:g.18080145=	NC_000008.10:g.18080145C>G	NC_000008.10:g.18080145C>T
NAT1 RefSeqGene	NG_012245.2:g.57175=	NG_012245.2:g.57175C>G	NG_012245.2:g.57175C>T
NAT1 transcript variant 5	NM_000662.8:c.589=	NM_000662.8:c.589C>G	NM_000662.8:c.589C>T
NAT1 transcript variant 5	NM_000662.7:c.589=	NM_000662.7:c.589C>G	NM_000662.7:c.589C>T
NAT1 transcript variant 5	NM_000662.6:c.589=	NM_000662.6:c.589C>G	NM_000662.6:c.589C>T
NAT1 transcript variant 5	NM_000662.5:c.589=	NM_000662.5:c.589C>G	NM_000662.5:c.589C>T
NAT1 transcript variant 1	NM_001160170.4:c.589=	NM_001160170.4:c.589C>G	NM_001160170.4:c.589C>T
NAT1 transcript variant 1	NM_001160170.3:c.589=	NM_001160170.3:c.589C>G	NM_001160170.3:c.589C>T
NAT1 transcript variant 1	NM_001160170.2:c.589=	NM_001160170.2:c.589C>G	NM_001160170.2:c.589C>T
NAT1 transcript variant 1	NM_001160170.1:c.589=	NM_001160170.1:c.589C>G	NM_001160170.1:c.589C>T
NAT1 transcript variant 2	NM_001160171.4:c.589=	NM_001160171.4:c.589C>G	NM_001160171.4:c.589C>T
NAT1 transcript variant 2	NM_001160171.3:c.589=	NM_001160171.3:c.589C>G	NM_001160171.3:c.589C>T
NAT1 transcript variant 2	NM_001160171.2:c.589=	NM_001160171.2:c.589C>G	NM_001160171.2:c.589C>T
NAT1 transcript variant 2	NM_001160171.1:c.589=	NM_001160171.1:c.589C>G	NM_001160171.1:c.589C>T
NAT1 transcript variant 3	NM_001160172.4:c.589=	NM_001160172.4:c.589C>G	NM_001160172.4:c.589C>T
NAT1 transcript variant 3	NM_001160172.3:c.589=	NM_001160172.3:c.589C>G	NM_001160172.3:c.589C>T
NAT1 transcript variant 3	NM_001160172.2:c.589=	NM_001160172.2:c.589C>G	NM_001160172.2:c.589C>T
NAT1 transcript variant 3	NM_001160172.1:c.589=	NM_001160172.1:c.589C>G	NM_001160172.1:c.589C>T
NAT1 transcript variant 7	NM_001160175.4:c.775=	NM_001160175.4:c.775C>G	NM_001160175.4:c.775C>T
NAT1 transcript variant 7	NM_001160175.3:c.775=	NM_001160175.3:c.775C>G	NM_001160175.3:c.775C>T
NAT1 transcript variant 7	NM_001160175.2:c.775=	NM_001160175.2:c.775C>G	NM_001160175.2:c.775C>T
NAT1 transcript variant 7	NM_001160175.1:c.775=	NM_001160175.1:c.775C>G	NM_001160175.1:c.775C>T
NAT1 transcript variant 4	NM_001160173.4:c.589=	NM_001160173.4:c.589C>G	NM_001160173.4:c.589C>T
NAT1 transcript variant 4	NM_001160173.3:c.589=	NM_001160173.3:c.589C>G	NM_001160173.3:c.589C>T
NAT1 transcript variant 4	NM_001160173.2:c.589=	NM_001160173.2:c.589C>G	NM_001160173.2:c.589C>T
NAT1 transcript variant 4	NM_001160173.1:c.589=	NM_001160173.1:c.589C>G	NM_001160173.1:c.589C>T
NAT1 transcript variant 8	NM_001160176.4:c.775=	NM_001160176.4:c.775C>G	NM_001160176.4:c.775C>T
NAT1 transcript variant 8	NM_001160176.3:c.775=	NM_001160176.3:c.775C>G	NM_001160176.3:c.775C>T
NAT1 transcript variant 8	NM_001160176.2:c.775=	NM_001160176.2:c.775C>G	NM_001160176.2:c.775C>T
NAT1 transcript variant 8	NM_001160176.1:c.775=	NM_001160176.1:c.775C>G	NM_001160176.1:c.775C>T
NAT1 transcript variant 6	NM_001160174.3:c.589=	NM_001160174.3:c.589C>G	NM_001160174.3:c.589C>T
NAT1 transcript variant 6	NM_001160174.2:c.589=	NM_001160174.2:c.589C>G	NM_001160174.2:c.589C>T
NAT1 transcript variant 6	NM_001160174.1:c.589=	NM_001160174.1:c.589C>G	NM_001160174.1:c.589C>T
NAT1 transcript variant 9	NM_001160179.3:c.589=	NM_001160179.3:c.589C>G	NM_001160179.3:c.589C>T
NAT1 transcript variant 9	NM_001160179.2:c.589=	NM_001160179.2:c.589C>G	NM_001160179.2:c.589C>T
NAT1 transcript variant 9	NM_001160179.1:c.589=	NM_001160179.1:c.589C>G	NM_001160179.1:c.589C>T
NAT1 transcript variant 10	NM_001291962.2:c.775=	NM_001291962.2:c.775C>G	NM_001291962.2:c.775C>T
NAT1 transcript variant 10	NM_001291962.1:c.775=	NM_001291962.1:c.775C>G	NM_001291962.1:c.775C>T
NAT1 transcript variant X4	XM_006716410.4:c.589=	XM_006716410.4:c.589C>G	XM_006716410.4:c.589C>T
NAT1 transcript variant X4	XM_006716410.3:c.589=	XM_006716410.3:c.589C>G	XM_006716410.3:c.589C>T
NAT1 transcript variant X3	XM_006716410.2:c.589=	XM_006716410.2:c.589C>G	XM_006716410.2:c.589C>T
NAT1 transcript variant X1	XM_006716410.1:c.589=	XM_006716410.1:c.589C>G	XM_006716410.1:c.589C>T
NAT1 transcript variant X5	XM_011544689.3:c.589=	XM_011544689.3:c.589C>G	XM_011544689.3:c.589C>T
NAT1 transcript variant X5	XM_011544689.2:c.589=	XM_011544689.2:c.589C>G	XM_011544689.2:c.589C>T
NAT1 transcript variant X4	XM_011544689.1:c.589=	XM_011544689.1:c.589C>G	XM_011544689.1:c.589C>T
NAT1 transcript variant X1	XM_047422397.1:c.775=	XM_047422397.1:c.775C>G	XM_047422397.1:c.775C>T
NAT1 transcript variant X2	XM_047422398.1:c.775=	XM_047422398.1:c.775C>G	XM_047422398.1:c.775C>T
NAT1 transcript variant X3	XM_047422399.1:c.589=	XM_047422399.1:c.589C>G	XM_047422399.1:c.589C>T
arylamine N-acetyltransferase 1 isoform a	NP_000653.3:p.Arg197=	NP_000653.3:p.Arg197Gly	NP_000653.3:p.Arg197Ter
arylamine N-acetyltransferase 1 isoform a	NP_001153642.1:p.Arg197=	NP_001153642.1:p.Arg197Gly	NP_001153642.1:p.Arg197Ter
arylamine N-acetyltransferase 1 isoform a	NP_001153643.1:p.Arg197=	NP_001153643.1:p.Arg197Gly	NP_001153643.1:p.Arg197Ter
arylamine N-acetyltransferase 1 isoform a	NP_001153644.1:p.Arg197=	NP_001153644.1:p.Arg197Gly	NP_001153644.1:p.Arg197Ter
arylamine N-acetyltransferase 1 isoform b	NP_001153647.1:p.Arg259=	NP_001153647.1:p.Arg259Gly	NP_001153647.1:p.Arg259Ter
arylamine N-acetyltransferase 1 isoform a	NP_001153645.1:p.Arg197=	NP_001153645.1:p.Arg197Gly	NP_001153645.1:p.Arg197Ter
arylamine N-acetyltransferase 1 isoform b	NP_001153648.1:p.Arg259=	NP_001153648.1:p.Arg259Gly	NP_001153648.1:p.Arg259Ter
arylamine N-acetyltransferase 1 isoform a	NP_001153646.1:p.Arg197=	NP_001153646.1:p.Arg197Gly	NP_001153646.1:p.Arg197Ter
arylamine N-acetyltransferase 1 isoform a	NP_001153651.1:p.Arg197=	NP_001153651.1:p.Arg197Gly	NP_001153651.1:p.Arg197Ter
arylamine N-acetyltransferase 1 isoform b	NP_001278891.1:p.Arg259=	NP_001278891.1:p.Arg259Gly	NP_001278891.1:p.Arg259Ter
arylamine N-acetyltransferase 1 isoform X2	XP_006716473.1:p.Arg197=	XP_006716473.1:p.Arg197Gly	XP_006716473.1:p.Arg197Ter
arylamine N-acetyltransferase 1 isoform X2	XP_011542991.1:p.Arg197=	XP_011542991.1:p.Arg197Gly	XP_011542991.1:p.Arg197Ter
arylamine N-acetyltransferase 1 isoform X1	XP_047278353.1:p.Arg259=	XP_047278353.1:p.Arg259Gly	XP_047278353.1:p.Arg259Ter
arylamine N-acetyltransferase 1 isoform X1	XP_047278354.1:p.Arg259=	XP_047278354.1:p.Arg259Gly	XP_047278354.1:p.Arg259Ter
arylamine N-acetyltransferase 1 isoform X2	XP_047278355.1:p.Arg197=	XP_047278355.1:p.Arg197Gly	XP_047278355.1:p.Arg197Ter

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#.

13 SubSNP, 12 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	EVA_FINRISK	ss1584057283	Apr 01, 2015 (144)
2	EVA_UK10K_ALSPAC	ss1620096461	Apr 01, 2015 (144)
3	EVA_UK10K_TWINSUK	ss1663090494	Apr 01, 2015 (144)
4	EVA_EXAC	ss1689107691	Apr 01, 2015 (144)
5	EVA_EXAC	ss1689107692	Apr 01, 2015 (144)
6	HUMAN_LONGEVITY	ss2301150676	Dec 20, 2016 (150)
7	GNOMAD	ss2737016449	Nov 08, 2017 (151)
8	GNOMAD	ss2748005867	Nov 08, 2017 (151)
9	GNOMAD	ss2863915042	Nov 08, 2017 (151)
10	KRGDB	ss3916826281	Apr 26, 2020 (154)
11	TOPMED	ss4777551351	Apr 26, 2021 (155)
12	TOPMED	ss4777551352	Apr 26, 2021 (155)
13	HUGCELL_USP	ss5472928048	Oct 13, 2022 (156)
14	The Avon Longitudinal Study of Parents and Children	NC_000008.10 - 18080145	Oct 12, 2018 (152)
15	ExAC Submission ignored due to conflicting rows: Row 9201037 (NC_000008.10:18080144:C:C 121158/121164, NC_000008.10:18080144:C:G 6/121164) Row 9201038 (NC_000008.10:18080144:C:C 121163/121164, NC_000008.10:18080144:C:T 1/121164)	-	Oct 12, 2018 (152)
16	ExAC Submission ignored due to conflicting rows: Row 9201037 (NC_000008.10:18080144:C:C 121158/121164, NC_000008.10:18080144:C:G 6/121164) Row 9201038 (NC_000008.10:18080144:C:C 121163/121164, NC_000008.10:18080144:C:T 1/121164)	-	Oct 12, 2018 (152)
17	FINRISK	NC_000008.10 - 18080145	Apr 26, 2020 (154)
18	gnomAD - Genomes	NC_000008.11 - 18222636	Apr 26, 2021 (155)
19	gnomAD - Exomes Submission ignored due to conflicting rows: Row 6184359 (NC_000008.10:18080144:C:C 249967/249972, NC_000008.10:18080144:C:G 5/249972) Row 6184360 (NC_000008.10:18080144:C:C 249971/249972, NC_000008.10:18080144:C:T 1/249972)	-	Jul 13, 2019 (153)
20	gnomAD - Exomes Submission ignored due to conflicting rows: Row 6184359 (NC_000008.10:18080144:C:C 249967/249972, NC_000008.10:18080144:C:G 5/249972) Row 6184360 (NC_000008.10:18080144:C:C 249971/249972, NC_000008.10:18080144:C:T 1/249972)	-	Jul 13, 2019 (153)
21	KOREAN population from KRGDB	NC_000008.10 - 18080145	Apr 26, 2020 (154)
22	TopMed Submission ignored due to conflicting rows: Row 614928911 (NC_000008.11:18222635:C:G 3/264690) Row 614928912 (NC_000008.11:18222635:C:T 4/264690)	-	Apr 26, 2021 (155)
23	TopMed Submission ignored due to conflicting rows: Row 614928911 (NC_000008.11:18222635:C:G 3/264690) Row 614928912 (NC_000008.11:18222635:C:T 4/264690)	-	Apr 26, 2021 (155)
24	UK 10K study - Twins	NC_000008.10 - 18080145	Oct 12, 2018 (152)
25	ALFA	NC_000008.11 - 18222636	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
22757067, 53744, 22757067, ss1584057283, ss1620096461, ss1663090494, ss1689107691, ss2737016449, ss2748005867, ss2863915042	NC_000008.10:18080144:C:G	NC_000008.11:18222635:C:G	(self)
288739421, 12537824849, ss2301150676, ss4777551351	NC_000008.11:18222635:C:G	NC_000008.11:18222635:C:G	(self)
24003675, ss1689107692, ss2737016449, ss3916826281	NC_000008.10:18080144:C:T	NC_000008.11:18222635:C:T	(self)
12537824849, ss2301150676, ss4777551352, ss5472928048	NC_000008.11:18222635:C:T	NC_000008.11:18222635:C:T	(self)

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

No publications for rs778732687

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs778732687