Name: rs1491308806
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.

rs1491308806

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:17268867 (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: insATATGT / insATGT
Variation Type: Indel Insertion and Deletion
Frequency: insATGT=0.000007 (1/136376, GnomAD)
insATATGT=0.00000 (0/14050, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: COPS3 : 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	HWEP
Total	Global	14050	T=1.00000	TATATGT=0.00000	1.0	N/A
European	Sub	9690	T=1.0000	TATATGT=0.0000	1.0	N/A
African	Sub	2898	T=1.0000	TATATGT=0.0000	1.0	N/A
African Others	Sub	114	T=1.000	TATATGT=0.000	1.0	N/A
African American	Sub	2784	T=1.0000	TATATGT=0.0000	1.0	N/A
Asian	Sub	112	T=1.000	TATATGT=0.000	1.0	N/A
East Asian	Sub	86	T=1.00	TATATGT=0.00	1.0	N/A
Other Asian	Sub	26	T=1.00	TATATGT=0.00	1.0	N/A
Latin American 1	Sub	146	T=1.000	TATATGT=0.000	1.0	N/A
Latin American 2	Sub	610	T=1.000	TATATGT=0.000	1.0	N/A
South Asian	Sub	98	T=1.00	TATATGT=0.00	1.0	N/A
Other	Sub	496	T=1.000	TATATGT=0.000	1.0	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
gnomAD - Genomes	Global	Study-wide	136376	- No frequency provided	insATGT=0.000007
gnomAD - Genomes	European	Sub	73790	- No frequency provided	insATGT=0.00000
gnomAD - Genomes	African	Sub	41136	- No frequency provided	insATGT=0.00000
gnomAD - Genomes	American	Sub	13084	- No frequency provided	insATGT=0.00000
gnomAD - Genomes	Ashkenazi Jewish	Sub	3254	- No frequency provided	insATGT=0.0000
gnomAD - Genomes	East Asian	Sub	3022	- No frequency provided	insATGT=0.0000
gnomAD - Genomes	Other	Sub	2090	- No frequency provided	insATGT=0.0005
Allele Frequency Aggregator	Total	Global	14050	T=1.00000	insATATGT=0.00000
Allele Frequency Aggregator	European	Sub	9690	T=1.0000	insATATGT=0.0000
Allele Frequency Aggregator	African	Sub	2898	T=1.0000	insATATGT=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	610	T=1.000	insATATGT=0.000
Allele Frequency Aggregator	Other	Sub	496	T=1.000	insATATGT=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	T=1.000	insATATGT=0.000
Allele Frequency Aggregator	Asian	Sub	112	T=1.000	insATATGT=0.000
Allele Frequency Aggregator	South Asian	Sub	98	T=1.00	insATATGT=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 17	NC_000017.11:g.17268867TA[2]TGT[1]
GRCh38.p14 chr 17	NC_000017.11:g.17268867_17268868insATGT
GRCh37.p13 chr 17	NC_000017.10:g.17172181TA[2]TGT[1]
GRCh37.p13 chr 17	NC_000017.10:g.17172181_17172182insATGT

Gene: COPS3, COP9 signalosome subunit 3 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
COPS3 transcript variant 2	NM_001199125.1:c.289-890_… NM_001199125.1:c.289-890_289-889insACATAT	N/A	Intron Variant
COPS3 transcript variant 3	NM_001316354.2:c.-110-822… NM_001316354.2:c.-110-822_-110-821insACATAT	N/A	Intron Variant
COPS3 transcript variant 4	NM_001316355.2:c.349-890_… NM_001316355.2:c.349-890_349-889insACATAT	N/A	Intron Variant
COPS3 transcript variant 5	NM_001316356.2:c.148-890_… NM_001316356.2:c.148-890_148-889insACATAT	N/A	Intron Variant
COPS3 transcript variant 6	NM_001316357.2:c.34-890_3… NM_001316357.2:c.34-890_34-889insACATAT	N/A	Intron Variant
COPS3 transcript variant 7	NM_001316358.2:c.34-890_3… NM_001316358.2:c.34-890_34-889insACATAT	N/A	Intron Variant
COPS3 transcript variant 1	NM_003653.4:c.349-890_349… NM_003653.4:c.349-890_349-889insACATAT	N/A	Intron Variant
COPS3 transcript variant X1	XM_047436961.1:c.148-890_… XM_047436961.1:c.148-890_148-889insACATAT	N/A	Intron Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

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".

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#.

1 SubSNP, 2 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GNOMAD	ss4308762121	Apr 27, 2021 (155)
2	gnomAD - Genomes	NC_000017.11 - 17268867	Apr 27, 2021 (155)
3	ALFA	NC_000017.11 - 17268867	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
861647200	NC_000017.11:17268866:T:TATATGT	NC_000017.11:17268866:T:TATATGT	(self)
502850173, ss4308762121	NC_000017.11:17268866::TATG	NC_000017.11:17268866:T:TATGT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3258524699	NC_000017.11:17268866::TATATG	NC_000017.11:17268866:T:TATATGT

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

No publications for rs1491308806

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.

Choose placement

Placement	T=	insATATGT	insATGT
GRCh38.p14 chr 17	NC_000017.11:g.17268867=	NC_000017.11:g.17268867TA[2]TGT[1]	NC_000017.11:g.17268867_17268868insATGT
GRCh37.p13 chr 17	NC_000017.10:g.17172181=	NC_000017.10:g.17172181TA[2]TGT[1]	NC_000017.10:g.17172181_17172182insATGT
COPS3 transcript variant 2	NM_001199125.1:c.289-890=	NM_001199125.1:c.289-890_289-889insACATAT	NM_001199125.1:c.289-890_289-889insACAT
COPS3 transcript variant 3	NM_001316354.2:c.-110-822=	NM_001316354.2:c.-110-822_-110-821insACATAT	NM_001316354.2:c.-110-822_-110-821insACAT
COPS3 transcript variant 4	NM_001316355.2:c.349-890=	NM_001316355.2:c.349-890_349-889insACATAT	NM_001316355.2:c.349-890_349-889insACAT
COPS3 transcript variant 5	NM_001316356.2:c.148-890=	NM_001316356.2:c.148-890_148-889insACATAT	NM_001316356.2:c.148-890_148-889insACAT
COPS3 transcript variant 6	NM_001316357.2:c.34-890=	NM_001316357.2:c.34-890_34-889insACATAT	NM_001316357.2:c.34-890_34-889insACAT
COPS3 transcript variant 7	NM_001316358.2:c.34-890=	NM_001316358.2:c.34-890_34-889insACATAT	NM_001316358.2:c.34-890_34-889insACAT
COPS3 transcript variant 1	NM_003653.3:c.349-890=	NM_003653.3:c.349-890_349-889insACATAT	NM_003653.3:c.349-890_349-889insACAT
COPS3 transcript variant 1	NM_003653.4:c.349-890=	NM_003653.4:c.349-890_349-889insACATAT	NM_003653.4:c.349-890_349-889insACAT
COPS3 transcript variant X1	XM_005256837.1:c.289-890=	XM_005256837.1:c.289-890_289-889insACATAT	XM_005256837.1:c.289-890_289-889insACAT
COPS3 transcript variant X2	XM_005256838.1:c.349-890=	XM_005256838.1:c.349-890_349-889insACATAT	XM_005256838.1:c.349-890_349-889insACAT
COPS3 transcript variant X3	XM_005256839.1:c.148-890=	XM_005256839.1:c.148-890_148-889insACATAT	XM_005256839.1:c.148-890_148-889insACAT
COPS3 transcript variant X4	XM_005256840.1:c.-110-822=	XM_005256840.1:c.-110-822_-110-821insACATAT	XM_005256840.1:c.-110-822_-110-821insACAT
COPS3 transcript variant X5	XM_005256841.1:c.-110-822=	XM_005256841.1:c.-110-822_-110-821insACATAT	XM_005256841.1:c.-110-822_-110-821insACAT
COPS3 transcript variant X6	XM_005256842.1:c.-110-822=	XM_005256842.1:c.-110-822_-110-821insACATAT	XM_005256842.1:c.-110-822_-110-821insACAT
COPS3 transcript variant X1	XM_047436961.1:c.148-890=	XM_047436961.1:c.148-890_148-889insACATAT	XM_047436961.1:c.148-890_148-889insACAT

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1491308806