Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs1491332454

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:47919016-47919017 (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
delTG
Variation Type
Deletion
Frequency
delTG=0.0810 (312/3854, ALSPAC)
delTG=0.0804 (298/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SP2 : Intron Variant
SP2-AS1 : Intron Variant
Publications
0 citations
Genomic View
See rs on genome
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
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 TG=0.9190 delTG=0.0810
UK 10K study - Twins TWIN COHORT Study-wide 3708 TG=0.9196 delTG=0.0804
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.p14 chr 17 NC_000017.11:g.47919016_47919017del
GRCh37.p13 chr 17 NC_000017.10:g.45996382_45996383del
Gene: SP2, Sp2 transcription factor (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SP2 transcript NM_003110.6:c.1059+1886_1…

NM_003110.6:c.1059+1886_1059+1887del

N/A Intron Variant
SP2 transcript variant X4 XM_006722023.3:c.1059+188…

XM_006722023.3:c.1059+1886_1059+1887del

N/A Intron Variant
SP2 transcript variant X6 XM_006722025.3:c.1038+188…

XM_006722025.3:c.1038+1886_1038+1887del

N/A Intron Variant
SP2 transcript variant X9 XM_006722027.3:c.1038+188…

XM_006722027.3:c.1038+1886_1038+1887del

N/A Intron Variant
SP2 transcript variant X1 XM_011525136.3:c.1371+188…

XM_011525136.3:c.1371+1886_1371+1887del

N/A Intron Variant
SP2 transcript variant X2 XM_011525137.3:c.1371+188…

XM_011525137.3:c.1371+1886_1371+1887del

N/A Intron Variant
SP2 transcript variant X3 XM_011525138.3:c.1371+188…

XM_011525138.3:c.1371+1886_1371+1887del

N/A Intron Variant
SP2 transcript variant X14 XM_011525139.3:c.1038+188…

XM_011525139.3:c.1038+1886_1038+1887del

N/A Intron Variant
SP2 transcript variant X17 XM_011525140.3:c.1371+188…

XM_011525140.3:c.1371+1886_1371+1887del

N/A Intron Variant
SP2 transcript variant X13 XM_011525143.2:c.1038+188…

XM_011525143.2:c.1038+1886_1038+1887del

N/A Intron Variant
SP2 transcript variant X12 XM_017024968.2:c.1038+188…

XM_017024968.2:c.1038+1886_1038+1887del

N/A Intron Variant
SP2 transcript variant X5 XM_047436569.1:c.1059+188…

XM_047436569.1:c.1059+1886_1059+1887del

N/A Intron Variant
SP2 transcript variant X7 XM_047436570.1:c.1038+188…

XM_047436570.1:c.1038+1886_1038+1887del

N/A Intron Variant
SP2 transcript variant X8 XM_047436571.1:c.1038+188…

XM_047436571.1:c.1038+1886_1038+1887del

N/A Intron Variant
SP2 transcript variant X10 XM_047436572.1:c.1038+188…

XM_047436572.1:c.1038+1886_1038+1887del

N/A Intron Variant
SP2 transcript variant X11 XM_047436573.1:c.1038+188…

XM_047436573.1:c.1038+1886_1038+1887del

N/A Intron Variant
SP2 transcript variant X15 XM_047436575.1:c.1038+188…

XM_047436575.1:c.1038+1886_1038+1887del

N/A Intron Variant
SP2 transcript variant X16 XM_047436576.1:c.1059+188…

XM_047436576.1:c.1059+1886_1059+1887del

N/A Intron Variant
SP2 transcript variant X18 XM_047436577.1:c.1038+188…

XM_047436577.1:c.1038+1886_1038+1887del

N/A Intron Variant
Gene: SP2-AS1, SP2 antisense RNA 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SP2-AS1 transcript variant 1 NR_103856.1:n. N/A Intron Variant
SP2-AS1 transcript variant 2 NR_103857.1:n. N/A Intron Variant
Help

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

Not Reported in ClinVar
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 TG= delTG
GRCh38.p14 chr 17 NC_000017.11:g.47919016_47919017= NC_000017.11:g.47919016_47919017del
GRCh37.p13 chr 17 NC_000017.10:g.45996382_45996383= NC_000017.10:g.45996382_45996383del
SP2 transcript NM_003110.5:c.1059+1886= NM_003110.5:c.1059+1886_1059+1887del
SP2 transcript NM_003110.6:c.1059+1886= NM_003110.6:c.1059+1886_1059+1887del
SP2 transcript variant X1 XM_005257611.1:c.1038+1886= XM_005257611.1:c.1038+1886_1038+1887del
SP2 transcript variant X2 XM_005257612.1:c.1038+1886= XM_005257612.1:c.1038+1886_1038+1887del
SP2 transcript variant X4 XM_006722023.3:c.1059+1886= XM_006722023.3:c.1059+1886_1059+1887del
SP2 transcript variant X6 XM_006722025.3:c.1038+1886= XM_006722025.3:c.1038+1886_1038+1887del
SP2 transcript variant X9 XM_006722027.3:c.1038+1886= XM_006722027.3:c.1038+1886_1038+1887del
SP2 transcript variant X1 XM_011525136.3:c.1371+1886= XM_011525136.3:c.1371+1886_1371+1887del
SP2 transcript variant X2 XM_011525137.3:c.1371+1886= XM_011525137.3:c.1371+1886_1371+1887del
SP2 transcript variant X3 XM_011525138.3:c.1371+1886= XM_011525138.3:c.1371+1886_1371+1887del
SP2 transcript variant X14 XM_011525139.3:c.1038+1886= XM_011525139.3:c.1038+1886_1038+1887del
SP2 transcript variant X17 XM_011525140.3:c.1371+1886= XM_011525140.3:c.1371+1886_1371+1887del
SP2 transcript variant X13 XM_011525143.2:c.1038+1886= XM_011525143.2:c.1038+1886_1038+1887del
SP2 transcript variant X12 XM_017024968.2:c.1038+1886= XM_017024968.2:c.1038+1886_1038+1887del
SP2 transcript variant X5 XM_047436569.1:c.1059+1886= XM_047436569.1:c.1059+1886_1059+1887del
SP2 transcript variant X7 XM_047436570.1:c.1038+1886= XM_047436570.1:c.1038+1886_1038+1887del
SP2 transcript variant X8 XM_047436571.1:c.1038+1886= XM_047436571.1:c.1038+1886_1038+1887del
SP2 transcript variant X10 XM_047436572.1:c.1038+1886= XM_047436572.1:c.1038+1886_1038+1887del
SP2 transcript variant X11 XM_047436573.1:c.1038+1886= XM_047436573.1:c.1038+1886_1038+1887del
SP2 transcript variant X15 XM_047436575.1:c.1038+1886= XM_047436575.1:c.1038+1886_1038+1887del
SP2 transcript variant X16 XM_047436576.1:c.1059+1886= XM_047436576.1:c.1059+1886_1059+1887del
SP2 transcript variant X18 XM_047436577.1:c.1038+1886= XM_047436577.1:c.1038+1886_1038+1887del
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

2 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_UK10K_ALSPAC ss1708772444 Jan 10, 2018 (151)
2 EVA_UK10K_TWINSUK ss1708772802 Jan 10, 2018 (151)
3 The Avon Longitudinal Study of Parents and Children NC_000017.10 - 45996382 Oct 12, 2018 (152)
4 UK 10K study - Twins NC_000017.10 - 45996382 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
39918796, 39918796, ss1708772444, ss1708772802 NC_000017.10:45996381:TG: NC_000017.11:47919015:TG: (self)
Help

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

No publications for rs1491332454

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.post820+afb47a3d