Name: rs1287215005
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.

rs1287215005

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr16:84148583-84148597 (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: delCTCT / delCT / dupCT / dupCTCT …
delCTCT / delCT / dupCT / dupCTCT / dup(CT)₃ / dup(CT)₄ / dup(CT)₅ / dup(CT)₆ / dup(CT)₇
Variation Type: Indel Insertion and Deletion
Frequency: dupCTCT=0.02846 (461/16200, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: DNAAF1 : Intron Variant
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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	16200	TCTCTCTCTCTCTCT=0.96130	TCTCTCTCTCT=0.00000, TCTCTCTCTCTCT=0.00000, TCTCTCTCTCTCTCTCT=0.00895, TCTCTCTCTCTCTCTCTCT=0.02846, TCTCTCTCTCTCTCTCTCTCT=0.00130	0.955374	0.010937	0.03369	32
European	Sub	12076	TCTCTCTCTCTCTCT=0.94808	TCTCTCTCTCT=0.00000, TCTCTCTCTCTCT=0.00000, TCTCTCTCTCTCTCTCT=0.01201, TCTCTCTCTCTCTCTCTCT=0.03817, TCTCTCTCTCTCTCTCTCTCT=0.00174	0.939759	0.014763	0.045478	32
African	Sub	2700	TCTCTCTCTCTCTCT=1.0000	TCTCTCTCTCT=0.0000, TCTCTCTCTCTCT=0.0000, TCTCTCTCTCTCTCTCT=0.0000, TCTCTCTCTCTCTCTCTCT=0.0000, TCTCTCTCTCTCTCTCTCTCT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	102	TCTCTCTCTCTCTCT=1.000	TCTCTCTCTCT=0.000, TCTCTCTCTCTCT=0.000, TCTCTCTCTCTCTCTCT=0.000, TCTCTCTCTCTCTCTCTCT=0.000, TCTCTCTCTCTCTCTCTCTCT=0.000	1.0	0.0	0.0	N/A
African American	Sub	2598	TCTCTCTCTCTCTCT=1.0000	TCTCTCTCTCT=0.0000, TCTCTCTCTCTCT=0.0000, TCTCTCTCTCTCTCTCT=0.0000, TCTCTCTCTCTCTCTCTCT=0.0000, TCTCTCTCTCTCTCTCTCTCT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	108	TCTCTCTCTCTCTCT=1.000	TCTCTCTCTCT=0.000, TCTCTCTCTCTCT=0.000, TCTCTCTCTCTCTCTCT=0.000, TCTCTCTCTCTCTCTCTCT=0.000, TCTCTCTCTCTCTCTCTCTCT=0.000	1.0	0.0	0.0	N/A
East Asian	Sub	84	TCTCTCTCTCTCTCT=1.00	TCTCTCTCTCT=0.00, TCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	24	TCTCTCTCTCTCTCT=1.00	TCTCTCTCTCT=0.00, TCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	146	TCTCTCTCTCTCTCT=1.000	TCTCTCTCTCT=0.000, TCTCTCTCTCTCT=0.000, TCTCTCTCTCTCTCTCT=0.000, TCTCTCTCTCTCTCTCTCT=0.000, TCTCTCTCTCTCTCTCTCTCT=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	604	TCTCTCTCTCTCTCT=1.000	TCTCTCTCTCT=0.000, TCTCTCTCTCTCT=0.000, TCTCTCTCTCTCTCTCT=0.000, TCTCTCTCTCTCTCTCTCT=0.000, TCTCTCTCTCTCTCTCTCTCT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	94	TCTCTCTCTCTCTCT=1.00	TCTCTCTCTCT=0.00, TCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCT=0.00	1.0	0.0	0.0	N/A
Other	Sub	472	TCTCTCTCTCTCTCT=1.000	TCTCTCTCTCT=0.000, TCTCTCTCTCTCT=0.000, TCTCTCTCTCTCTCTCT=0.000, TCTCTCTCTCTCTCTCTCT=0.000, TCTCTCTCTCTCTCTCTCTCT=0.000	1.0	0.0	0.0	N/A

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
Allele Frequency Aggregator	Total	Global	16200	(TC)₇T=0.96130	delCTCT=0.00000, delCT=0.00000, dupCT=0.00895, dupCTCT=0.02846, dup(CT)₃=0.00130
Allele Frequency Aggregator	European	Sub	12076	(TC)₇T=0.94808	delCTCT=0.00000, delCT=0.00000, dupCT=0.01201, dupCTCT=0.03817, dup(CT)₃=0.00174
Allele Frequency Aggregator	African	Sub	2700	(TC)₇T=1.0000	delCTCT=0.0000, delCT=0.0000, dupCT=0.0000, dupCTCT=0.0000, dup(CT)₃=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	604	(TC)₇T=1.000	delCTCT=0.000, delCT=0.000, dupCT=0.000, dupCTCT=0.000, dup(CT)₃=0.000
Allele Frequency Aggregator	Other	Sub	472	(TC)₇T=1.000	delCTCT=0.000, delCT=0.000, dupCT=0.000, dupCTCT=0.000, dup(CT)₃=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	(TC)₇T=1.000	delCTCT=0.000, delCT=0.000, dupCT=0.000, dupCTCT=0.000, dup(CT)₃=0.000
Allele Frequency Aggregator	Asian	Sub	108	(TC)₇T=1.000	delCTCT=0.000, delCT=0.000, dupCT=0.000, dupCTCT=0.000, dup(CT)₃=0.000
Allele Frequency Aggregator	South Asian	Sub	94	(TC)₇T=1.00	delCTCT=0.00, delCT=0.00, dupCT=0.00, dupCTCT=0.00, dup(CT)₃=0.00

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 16	NC_000016.10:g.84148584CT[5]
GRCh38.p14 chr 16	NC_000016.10:g.84148584CT[6]
GRCh38.p14 chr 16	NC_000016.10:g.84148584CT[8]
GRCh38.p14 chr 16	NC_000016.10:g.84148584CT[9]
GRCh38.p14 chr 16	NC_000016.10:g.84148584CT[10]
GRCh38.p14 chr 16	NC_000016.10:g.84148584CT[11]
GRCh38.p14 chr 16	NC_000016.10:g.84148584CT[12]
GRCh38.p14 chr 16	NC_000016.10:g.84148584CT[13]
GRCh38.p14 chr 16	NC_000016.10:g.84148584CT[14]
GRCh37.p13 chr 16	NC_000016.9:g.84182189CT[5]
GRCh37.p13 chr 16	NC_000016.9:g.84182189CT[6]
GRCh37.p13 chr 16	NC_000016.9:g.84182189CT[8]
GRCh37.p13 chr 16	NC_000016.9:g.84182189CT[9]
GRCh37.p13 chr 16	NC_000016.9:g.84182189CT[10]
GRCh37.p13 chr 16	NC_000016.9:g.84182189CT[11]
GRCh37.p13 chr 16	NC_000016.9:g.84182189CT[12]
GRCh37.p13 chr 16	NC_000016.9:g.84182189CT[13]
GRCh37.p13 chr 16	NC_000016.9:g.84182189CT[14]
DNAAF1 RefSeqGene	NG_021174.2:g.8278CT[5]
DNAAF1 RefSeqGene	NG_021174.2:g.8278CT[6]
DNAAF1 RefSeqGene	NG_021174.2:g.8278CT[8]
DNAAF1 RefSeqGene	NG_021174.2:g.8278CT[9]
DNAAF1 RefSeqGene	NG_021174.2:g.8278CT[10]
DNAAF1 RefSeqGene	NG_021174.2:g.8278CT[11]
DNAAF1 RefSeqGene	NG_021174.2:g.8278CT[12]
DNAAF1 RefSeqGene	NG_021174.2:g.8278CT[13]
DNAAF1 RefSeqGene	NG_021174.2:g.8278CT[14]
DNAAF1 RefSeqGene	NG_021174.1:g.8325CT[5]
DNAAF1 RefSeqGene	NG_021174.1:g.8325CT[6]
DNAAF1 RefSeqGene	NG_021174.1:g.8325CT[8]
DNAAF1 RefSeqGene	NG_021174.1:g.8325CT[9]
DNAAF1 RefSeqGene	NG_021174.1:g.8325CT[10]
DNAAF1 RefSeqGene	NG_021174.1:g.8325CT[11]
DNAAF1 RefSeqGene	NG_021174.1:g.8325CT[12]
DNAAF1 RefSeqGene	NG_021174.1:g.8325CT[13]
DNAAF1 RefSeqGene	NG_021174.1:g.8325CT[14]

Gene: DNAAF1, dynein axonemal assembly factor 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DNAAF1 transcript variant 1	NM_178452.6:c.125-424TC[5]	N/A	Intron Variant
DNAAF1 transcript variant 2	NM_001318756.1:c.	N/A	Genic Upstream Transcript Variant
DNAAF1 transcript variant X5	XM_006721129.4:c.125-424T… XM_006721129.4:c.125-424TC[5]	N/A	Intron Variant
DNAAF1 transcript variant X1	XM_011522853.4:c.125-424T… XM_011522853.4:c.125-424TC[5]	N/A	Intron Variant
DNAAF1 transcript variant X3	XM_011522854.4:c.125-424T… XM_011522854.4:c.125-424TC[5]	N/A	Intron Variant
DNAAF1 transcript variant X4	XM_011522855.4:c.125-424T… XM_011522855.4:c.125-424TC[5]	N/A	Intron Variant
DNAAF1 transcript variant X8	XM_011522857.4:c.125-424T… XM_011522857.4:c.125-424TC[5]	N/A	Intron Variant
DNAAF1 transcript variant X9	XM_011522858.4:c.125-424T… XM_011522858.4:c.125-424TC[5]	N/A	Intron Variant
DNAAF1 transcript variant X2	XM_017022918.3:c.125-424T… XM_017022918.3:c.125-424TC[5]	N/A	Intron Variant
DNAAF1 transcript variant X10	XM_017022919.2:c.-137-424… XM_017022919.2:c.-137-424TC[5]	N/A	Intron Variant
DNAAF1 transcript variant X6	XM_047433589.1:c.125-424T… XM_047433589.1:c.125-424TC[5]	N/A	Intron Variant
DNAAF1 transcript variant X7	XM_047433590.1:c.125-424T… XM_047433590.1:c.125-424TC[5]	N/A	Intron Variant
DNAAF1 transcript variant X11	XM_017022920.3:c.	N/A	Genic Upstream Transcript 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	(TC)₇T=	delCTCT	delCT	dupCT	dupCTCT	dup(CT)₃	dup(CT)₄	dup(CT)₅	dup(CT)₆	dup(CT)₇
GRCh38.p14 chr 16	NC_000016.10:g.84148583_84148597=	NC_000016.10:g.84148584CT[5]	NC_000016.10:g.84148584CT[6]	NC_000016.10:g.84148584CT[8]	NC_000016.10:g.84148584CT[9]	NC_000016.10:g.84148584CT[10]	NC_000016.10:g.84148584CT[11]	NC_000016.10:g.84148584CT[12]	NC_000016.10:g.84148584CT[13]	NC_000016.10:g.84148584CT[14]
GRCh37.p13 chr 16	NC_000016.9:g.84182188_84182202=	NC_000016.9:g.84182189CT[5]	NC_000016.9:g.84182189CT[6]	NC_000016.9:g.84182189CT[8]	NC_000016.9:g.84182189CT[9]	NC_000016.9:g.84182189CT[10]	NC_000016.9:g.84182189CT[11]	NC_000016.9:g.84182189CT[12]	NC_000016.9:g.84182189CT[13]	NC_000016.9:g.84182189CT[14]
DNAAF1 RefSeqGene	NG_021174.2:g.8277_8291=	NG_021174.2:g.8278CT[5]	NG_021174.2:g.8278CT[6]	NG_021174.2:g.8278CT[8]	NG_021174.2:g.8278CT[9]	NG_021174.2:g.8278CT[10]	NG_021174.2:g.8278CT[11]	NG_021174.2:g.8278CT[12]	NG_021174.2:g.8278CT[13]	NG_021174.2:g.8278CT[14]
DNAAF1 RefSeqGene	NG_021174.1:g.8324_8338=	NG_021174.1:g.8325CT[5]	NG_021174.1:g.8325CT[6]	NG_021174.1:g.8325CT[8]	NG_021174.1:g.8325CT[9]	NG_021174.1:g.8325CT[10]	NG_021174.1:g.8325CT[11]	NG_021174.1:g.8325CT[12]	NG_021174.1:g.8325CT[13]	NG_021174.1:g.8325CT[14]
DNAAF1 transcript	NM_178452.4:c.125-424=	NM_178452.4:c.125-424TC[5]	NM_178452.4:c.125-424TC[6]	NM_178452.4:c.125-424TC[8]	NM_178452.4:c.125-424TC[9]	NM_178452.4:c.125-424TC[10]	NM_178452.4:c.125-424TC[11]	NM_178452.4:c.125-424TC[12]	NM_178452.4:c.125-424TC[13]	NM_178452.4:c.125-424TC[14]
DNAAF1 transcript variant 1	NM_178452.6:c.125-424=	NM_178452.6:c.125-424TC[5]	NM_178452.6:c.125-424TC[6]	NM_178452.6:c.125-424TC[8]	NM_178452.6:c.125-424TC[9]	NM_178452.6:c.125-424TC[10]	NM_178452.6:c.125-424TC[11]	NM_178452.6:c.125-424TC[12]	NM_178452.6:c.125-424TC[13]	NM_178452.6:c.125-424TC[14]
DNAAF1 transcript variant X1	XM_005255793.1:c.125-424=	XM_005255793.1:c.125-424TC[5]	XM_005255793.1:c.125-424TC[6]	XM_005255793.1:c.125-424TC[8]	XM_005255793.1:c.125-424TC[9]	XM_005255793.1:c.125-424TC[10]	XM_005255793.1:c.125-424TC[11]	XM_005255793.1:c.125-424TC[12]	XM_005255793.1:c.125-424TC[13]	XM_005255793.1:c.125-424TC[14]
DNAAF1 transcript variant X5	XM_006721129.4:c.125-424=	XM_006721129.4:c.125-424TC[5]	XM_006721129.4:c.125-424TC[6]	XM_006721129.4:c.125-424TC[8]	XM_006721129.4:c.125-424TC[9]	XM_006721129.4:c.125-424TC[10]	XM_006721129.4:c.125-424TC[11]	XM_006721129.4:c.125-424TC[12]	XM_006721129.4:c.125-424TC[13]	XM_006721129.4:c.125-424TC[14]
DNAAF1 transcript variant X1	XM_011522853.4:c.125-424=	XM_011522853.4:c.125-424TC[5]	XM_011522853.4:c.125-424TC[6]	XM_011522853.4:c.125-424TC[8]	XM_011522853.4:c.125-424TC[9]	XM_011522853.4:c.125-424TC[10]	XM_011522853.4:c.125-424TC[11]	XM_011522853.4:c.125-424TC[12]	XM_011522853.4:c.125-424TC[13]	XM_011522853.4:c.125-424TC[14]
DNAAF1 transcript variant X3	XM_011522854.4:c.125-424=	XM_011522854.4:c.125-424TC[5]	XM_011522854.4:c.125-424TC[6]	XM_011522854.4:c.125-424TC[8]	XM_011522854.4:c.125-424TC[9]	XM_011522854.4:c.125-424TC[10]	XM_011522854.4:c.125-424TC[11]	XM_011522854.4:c.125-424TC[12]	XM_011522854.4:c.125-424TC[13]	XM_011522854.4:c.125-424TC[14]
DNAAF1 transcript variant X4	XM_011522855.4:c.125-424=	XM_011522855.4:c.125-424TC[5]	XM_011522855.4:c.125-424TC[6]	XM_011522855.4:c.125-424TC[8]	XM_011522855.4:c.125-424TC[9]	XM_011522855.4:c.125-424TC[10]	XM_011522855.4:c.125-424TC[11]	XM_011522855.4:c.125-424TC[12]	XM_011522855.4:c.125-424TC[13]	XM_011522855.4:c.125-424TC[14]
DNAAF1 transcript variant X8	XM_011522857.4:c.125-424=	XM_011522857.4:c.125-424TC[5]	XM_011522857.4:c.125-424TC[6]	XM_011522857.4:c.125-424TC[8]	XM_011522857.4:c.125-424TC[9]	XM_011522857.4:c.125-424TC[10]	XM_011522857.4:c.125-424TC[11]	XM_011522857.4:c.125-424TC[12]	XM_011522857.4:c.125-424TC[13]	XM_011522857.4:c.125-424TC[14]
DNAAF1 transcript variant X9	XM_011522858.4:c.125-424=	XM_011522858.4:c.125-424TC[5]	XM_011522858.4:c.125-424TC[6]	XM_011522858.4:c.125-424TC[8]	XM_011522858.4:c.125-424TC[9]	XM_011522858.4:c.125-424TC[10]	XM_011522858.4:c.125-424TC[11]	XM_011522858.4:c.125-424TC[12]	XM_011522858.4:c.125-424TC[13]	XM_011522858.4:c.125-424TC[14]
DNAAF1 transcript variant X2	XM_017022918.3:c.125-424=	XM_017022918.3:c.125-424TC[5]	XM_017022918.3:c.125-424TC[6]	XM_017022918.3:c.125-424TC[8]	XM_017022918.3:c.125-424TC[9]	XM_017022918.3:c.125-424TC[10]	XM_017022918.3:c.125-424TC[11]	XM_017022918.3:c.125-424TC[12]	XM_017022918.3:c.125-424TC[13]	XM_017022918.3:c.125-424TC[14]
DNAAF1 transcript variant X10	XM_017022919.2:c.-137-424=	XM_017022919.2:c.-137-424TC[5]	XM_017022919.2:c.-137-424TC[6]	XM_017022919.2:c.-137-424TC[8]	XM_017022919.2:c.-137-424TC[9]	XM_017022919.2:c.-137-424TC[10]	XM_017022919.2:c.-137-424TC[11]	XM_017022919.2:c.-137-424TC[12]	XM_017022919.2:c.-137-424TC[13]	XM_017022919.2:c.-137-424TC[14]
DNAAF1 transcript variant X6	XM_047433589.1:c.125-424=	XM_047433589.1:c.125-424TC[5]	XM_047433589.1:c.125-424TC[6]	XM_047433589.1:c.125-424TC[8]	XM_047433589.1:c.125-424TC[9]	XM_047433589.1:c.125-424TC[10]	XM_047433589.1:c.125-424TC[11]	XM_047433589.1:c.125-424TC[12]	XM_047433589.1:c.125-424TC[13]	XM_047433589.1:c.125-424TC[14]
DNAAF1 transcript variant X7	XM_047433590.1:c.125-424=	XM_047433590.1:c.125-424TC[5]	XM_047433590.1:c.125-424TC[6]	XM_047433590.1:c.125-424TC[8]	XM_047433590.1:c.125-424TC[9]	XM_047433590.1:c.125-424TC[10]	XM_047433590.1:c.125-424TC[11]	XM_047433590.1:c.125-424TC[12]	XM_047433590.1:c.125-424TC[13]	XM_047433590.1:c.125-424TC[14]

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#.

48 SubSNP, 26 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	EVA_DECODE	ss1696807100	Oct 12, 2018 (152)
2	SWEGEN	ss3014940885	Nov 08, 2017 (151)
3	SWEGEN	ss3014940886	Nov 08, 2017 (151)
4	SWEGEN	ss3014940887	Nov 08, 2017 (151)
5	MCHAISSO	ss3064695461	Nov 08, 2017 (151)
6	EVA_DECODE	ss3699778737	Jul 13, 2019 (153)
7	EVA_DECODE	ss3699778738	Jul 13, 2019 (153)
8	EVA_DECODE	ss3699778739	Jul 13, 2019 (153)
9	EVA_DECODE	ss3699778740	Jul 13, 2019 (153)
10	ACPOP	ss3741736447	Jul 13, 2019 (153)
11	ACPOP	ss3741736448	Jul 13, 2019 (153)
12	ACPOP	ss3741736449	Jul 13, 2019 (153)
13	ACPOP	ss3741736450	Jul 13, 2019 (153)
14	KOGIC	ss3978092347	Apr 27, 2020 (154)
15	KOGIC	ss3978092348	Apr 27, 2020 (154)
16	GNOMAD	ss4305516940	Apr 27, 2021 (155)
17	GNOMAD	ss4305516941	Apr 27, 2021 (155)
18	GNOMAD	ss4305516942	Apr 27, 2021 (155)
19	GNOMAD	ss4305516943	Apr 27, 2021 (155)
20	GNOMAD	ss4305516944	Apr 27, 2021 (155)
21	GNOMAD	ss4305516945	Apr 27, 2021 (155)
22	GNOMAD	ss4305516946	Apr 27, 2021 (155)
23	GNOMAD	ss4305516947	Apr 27, 2021 (155)
24	GNOMAD	ss4305516948	Apr 27, 2021 (155)
25	TOMMO_GENOMICS	ss5220775971	Apr 27, 2021 (155)
26	TOMMO_GENOMICS	ss5220775972	Apr 27, 2021 (155)
27	TOMMO_GENOMICS	ss5220775973	Apr 27, 2021 (155)
28	TOMMO_GENOMICS	ss5220775974	Apr 27, 2021 (155)
29	TOMMO_GENOMICS	ss5220775975	Apr 27, 2021 (155)
30	1000G_HIGH_COVERAGE	ss5301880634	Oct 17, 2022 (156)
31	1000G_HIGH_COVERAGE	ss5301880635	Oct 17, 2022 (156)
32	1000G_HIGH_COVERAGE	ss5301880636	Oct 17, 2022 (156)
33	1000G_HIGH_COVERAGE	ss5301880637	Oct 17, 2022 (156)
34	1000G_HIGH_COVERAGE	ss5301880638	Oct 17, 2022 (156)
35	HUGCELL_USP	ss5495133735	Oct 17, 2022 (156)
36	HUGCELL_USP	ss5495133736	Oct 17, 2022 (156)
37	HUGCELL_USP	ss5495133737	Oct 17, 2022 (156)
38	HUGCELL_USP	ss5495133738	Oct 17, 2022 (156)
39	HUGCELL_USP	ss5495133739	Oct 17, 2022 (156)
40	SANFORD_IMAGENETICS	ss5659417295	Oct 17, 2022 (156)
41	TOMMO_GENOMICS	ss5776133605	Oct 17, 2022 (156)
42	TOMMO_GENOMICS	ss5776133606	Oct 17, 2022 (156)
43	TOMMO_GENOMICS	ss5776133607	Oct 17, 2022 (156)
44	TOMMO_GENOMICS	ss5776133608	Oct 17, 2022 (156)
45	TOMMO_GENOMICS	ss5776133609	Oct 17, 2022 (156)
46	EVA	ss5846770161	Oct 17, 2022 (156)
47	EVA	ss5846770162	Oct 17, 2022 (156)
48	EVA	ss5851675635	Oct 17, 2022 (156)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497251826 (NC_000016.10:84148582::TC 481/107462) Row 497251827 (NC_000016.10:84148582::TCTC 2449/106718) Row 497251828 (NC_000016.10:84148582::TCTCTC 259/107546)...	-	Apr 27, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497251826 (NC_000016.10:84148582::TC 481/107462) Row 497251827 (NC_000016.10:84148582::TCTC 2449/106718) Row 497251828 (NC_000016.10:84148582::TCTCTC 259/107546)...	-	Apr 27, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497251826 (NC_000016.10:84148582::TC 481/107462) Row 497251827 (NC_000016.10:84148582::TCTC 2449/106718) Row 497251828 (NC_000016.10:84148582::TCTCTC 259/107546)...	-	Apr 27, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497251826 (NC_000016.10:84148582::TC 481/107462) Row 497251827 (NC_000016.10:84148582::TCTC 2449/106718) Row 497251828 (NC_000016.10:84148582::TCTCTC 259/107546)...	-	Apr 27, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497251826 (NC_000016.10:84148582::TC 481/107462) Row 497251827 (NC_000016.10:84148582::TCTC 2449/106718) Row 497251828 (NC_000016.10:84148582::TCTCTC 259/107546)...	-	Apr 27, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497251826 (NC_000016.10:84148582::TC 481/107462) Row 497251827 (NC_000016.10:84148582::TCTC 2449/106718) Row 497251828 (NC_000016.10:84148582::TCTCTC 259/107546)...	-	Apr 27, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497251826 (NC_000016.10:84148582::TC 481/107462) Row 497251827 (NC_000016.10:84148582::TCTC 2449/106718) Row 497251828 (NC_000016.10:84148582::TCTCTC 259/107546)...	-	Apr 27, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497251826 (NC_000016.10:84148582::TC 481/107462) Row 497251827 (NC_000016.10:84148582::TCTC 2449/106718) Row 497251828 (NC_000016.10:84148582::TCTCTC 259/107546)...	-	Apr 27, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497251826 (NC_000016.10:84148582::TC 481/107462) Row 497251827 (NC_000016.10:84148582::TCTC 2449/106718) Row 497251828 (NC_000016.10:84148582::TCTCTC 259/107546)...	-	Apr 27, 2021 (155)
58	Korean Genome Project Submission ignored due to conflicting rows: Row 34470348 (NC_000016.10:84148582::TCTC 55/1832) Row 34470349 (NC_000016.10:84148582::TC 28/1832)	-	Apr 27, 2020 (154)
59	Korean Genome Project Submission ignored due to conflicting rows: Row 34470348 (NC_000016.10:84148582::TCTC 55/1832) Row 34470349 (NC_000016.10:84148582::TC 28/1832)	-	Apr 27, 2020 (154)
60	Northern Sweden Submission ignored due to conflicting rows: Row 15021312 (NC_000016.9:84182187::TCTCTC 6/600) Row 15021313 (NC_000016.9:84182187::TCTC 84/600) Row 15021314 (NC_000016.9:84182187::TC 14/600)...	-	Jul 13, 2019 (153)
61	Northern Sweden Submission ignored due to conflicting rows: Row 15021312 (NC_000016.9:84182187::TCTCTC 6/600) Row 15021313 (NC_000016.9:84182187::TCTC 84/600) Row 15021314 (NC_000016.9:84182187::TC 14/600)...	-	Jul 13, 2019 (153)
62	Northern Sweden Submission ignored due to conflicting rows: Row 15021312 (NC_000016.9:84182187::TCTCTC 6/600) Row 15021313 (NC_000016.9:84182187::TCTC 84/600) Row 15021314 (NC_000016.9:84182187::TC 14/600)...	-	Jul 13, 2019 (153)
63	Northern Sweden Submission ignored due to conflicting rows: Row 15021312 (NC_000016.9:84182187::TCTCTC 6/600) Row 15021313 (NC_000016.9:84182187::TCTC 84/600) Row 15021314 (NC_000016.9:84182187::TC 14/600)...	-	Jul 13, 2019 (153)
64	8.3KJPN Submission ignored due to conflicting rows: Row 78745278 (NC_000016.9:84182187::TCTC 1046/16746) Row 78745279 (NC_000016.9:84182187::TC 387/16746) Row 78745280 (NC_000016.9:84182187:TC: 20/16746)...	-	Apr 27, 2021 (155)
65	8.3KJPN Submission ignored due to conflicting rows: Row 78745278 (NC_000016.9:84182187::TCTC 1046/16746) Row 78745279 (NC_000016.9:84182187::TC 387/16746) Row 78745280 (NC_000016.9:84182187:TC: 20/16746)...	-	Apr 27, 2021 (155)
66	8.3KJPN Submission ignored due to conflicting rows: Row 78745278 (NC_000016.9:84182187::TCTC 1046/16746) Row 78745279 (NC_000016.9:84182187::TC 387/16746) Row 78745280 (NC_000016.9:84182187:TC: 20/16746)...	-	Apr 27, 2021 (155)
67	8.3KJPN Submission ignored due to conflicting rows: Row 78745278 (NC_000016.9:84182187::TCTC 1046/16746) Row 78745279 (NC_000016.9:84182187::TC 387/16746) Row 78745280 (NC_000016.9:84182187:TC: 20/16746)...	-	Apr 27, 2021 (155)
68	8.3KJPN Submission ignored due to conflicting rows: Row 78745278 (NC_000016.9:84182187::TCTC 1046/16746) Row 78745279 (NC_000016.9:84182187::TC 387/16746) Row 78745280 (NC_000016.9:84182187:TC: 20/16746)...	-	Apr 27, 2021 (155)
69	14KJPN Submission ignored due to conflicting rows: Row 109970709 (NC_000016.10:84148582::TC 461/28024) Row 109970710 (NC_000016.10:84148582::TCTC 1208/28024) Row 109970711 (NC_000016.10:84148582:TC: 25/28024)...	-	Oct 17, 2022 (156)
70	14KJPN Submission ignored due to conflicting rows: Row 109970709 (NC_000016.10:84148582::TC 461/28024) Row 109970710 (NC_000016.10:84148582::TCTC 1208/28024) Row 109970711 (NC_000016.10:84148582:TC: 25/28024)...	-	Oct 17, 2022 (156)
71	14KJPN Submission ignored due to conflicting rows: Row 109970709 (NC_000016.10:84148582::TC 461/28024) Row 109970710 (NC_000016.10:84148582::TCTC 1208/28024) Row 109970711 (NC_000016.10:84148582:TC: 25/28024)...	-	Oct 17, 2022 (156)
72	14KJPN Submission ignored due to conflicting rows: Row 109970709 (NC_000016.10:84148582::TC 461/28024) Row 109970710 (NC_000016.10:84148582::TCTC 1208/28024) Row 109970711 (NC_000016.10:84148582:TC: 25/28024)...	-	Oct 17, 2022 (156)
73	14KJPN Submission ignored due to conflicting rows: Row 109970709 (NC_000016.10:84148582::TC 461/28024) Row 109970710 (NC_000016.10:84148582::TCTC 1208/28024) Row 109970711 (NC_000016.10:84148582:TC: 25/28024)...	-	Oct 17, 2022 (156)
74	ALFA	NC_000016.10 - 84148583	Apr 27, 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
ss5220775975	NC_000016.9:84182187:TCTC:	NC_000016.10:84148582:TCTCTCTCTCTC… NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCT	(self)
ss4305516948, ss5301880637, ss5495133739, ss5776133609	NC_000016.10:84148582:TCTC:	NC_000016.10:84148582:TCTCTCTCTCTC… NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCT	(self)
2748436300	NC_000016.10:84148582:TCTCTCTCTCTC… NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCT	NC_000016.10:84148582:TCTCTCTCTCTC… NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCT	(self)
ss3741736450, ss5220775973	NC_000016.9:84182187:TC:	NC_000016.10:84148582:TCTCTCTCTCTC… NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCTCT	(self)
ss4305516947, ss5776133607	NC_000016.10:84148582:TC:	NC_000016.10:84148582:TCTCTCTCTCTC… NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCTCT	(self)
2748436300	NC_000016.10:84148582:TCTCTCTCTCTC… NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCTCT	NC_000016.10:84148582:TCTCTCTCTCTC… NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCTCT	(self)
ss3014940887, ss3741736449, ss5220775972	NC_000016.9:84182187::TC	NC_000016.10:84148582:TCTCTCTCTCTC… NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT	(self)
ss3699778737, ss3978092348, ss4305516940, ss5301880635, ss5495133737, ss5776133605	NC_000016.10:84148582::TC	NC_000016.10:84148582:TCTCTCTCTCTC… NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT	(self)
2748436300	NC_000016.10:84148582:TCTCTCTCTCTC… NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT	NC_000016.10:84148582:TCTCTCTCTCTC… NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT	(self)
ss1696807100	NC_000016.8:82739689::CTCT	NC_000016.10:84148582:TCTCTCTCTCTC… NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT	(self)
ss3014940885, ss3741736448, ss5220775971, ss5659417295, ss5846770161	NC_000016.9:84182187::TCTC	NC_000016.10:84148582:TCTCTCTCTCTC… NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT	(self)
ss3064695461, ss3699778738, ss3978092347, ss4305516941, ss5495133735, ss5776133606, ss5851675635	NC_000016.10:84148582::TCTC	NC_000016.10:84148582:TCTCTCTCTCTC… NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT	(self)
2748436300	NC_000016.10:84148582:TCTCTCTCTCTC… NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT	NC_000016.10:84148582:TCTCTCTCTCTC… NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT	(self)
ss3699778740	NC_000016.10:84148587::CTCT	NC_000016.10:84148582:TCTCTCTCTCTC… NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT	(self)
ss3014940886, ss3741736447, ss5220775974, ss5846770162	NC_000016.9:84182187::TCTCTC	NC_000016.10:84148582:TCTCTCTCTCTC… NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT	(self)
ss3699778739, ss4305516942, ss5301880634, ss5495133736, ss5776133608	NC_000016.10:84148582::TCTCTC	NC_000016.10:84148582:TCTCTCTCTCTC… NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT	(self)
2748436300	NC_000016.10:84148582:TCTCTCTCTCTC… NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT	NC_000016.10:84148582:TCTCTCTCTCTC… NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT	(self)
ss4305516943, ss5301880636, ss5495133738	NC_000016.10:84148582::TCTCTCTC	NC_000016.10:84148582:TCTCTCTCTCTC… NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT	(self)
ss4305516944	NC_000016.10:84148582::TCTCTCTCTC	NC_000016.10:84148582:TCTCTCTCTCTC… NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss4305516945	NC_000016.10:84148582::TCTCTCTCTCTC	NC_000016.10:84148582:TCTCTCTCTCTC… NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss4305516946, ss5301880638	NC_000016.10:84148582::TCTCTCTCTCT… NC_000016.10:84148582::TCTCTCTCTCTCTC	NC_000016.10:84148582:TCTCTCTCTCTC… NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(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 rs1287215005

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1287215005