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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.

rs1491545354

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:36431560-36431561 (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
insG
Variation Type
Insertion
Frequency
insG=0.00184 (108/58830, GnomAD)
insG=0.00145 (41/28256, 14KJPN)
insG=0.00121 (20/16490, 8.3KJPN) (+ 1 more)
insG=0.0017 (3/1808, Korea1K)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ANLN : 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
gnomAD - Genomes Global Study-wide 58830 -

No frequency provided

insG=0.00184
gnomAD - Genomes European Sub 32910 -

No frequency provided

insG=0.00258
gnomAD - Genomes African Sub 18606 -

No frequency provided

insG=0.00075
gnomAD - Genomes American Sub 3838 -

No frequency provided

insG=0.0008
gnomAD - Genomes Ashkenazi Jewish Sub 1596 -

No frequency provided

insG=0.0013
gnomAD - Genomes East Asian Sub 1110 -

No frequency provided

insG=0.0009
gnomAD - Genomes Other Sub 770 -

No frequency provided

insG=0.004
14KJPN JAPANESE Study-wide 28256 -

No frequency provided

insG=0.00145
8.3KJPN JAPANESE Study-wide 16490 -

No frequency provided

insG=0.00121
Korean Genome Project KOREAN Study-wide 1808 -

No frequency provided

insG=0.0017
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 7 NC_000007.14:g.36431560_36431561insG
GRCh37.p13 chr 7 NC_000007.13:g.36471169_36471170insG
ANLN RefSeqGene NG_041770.1:g.46758_46759insG
Gene: ANLN, anillin actin binding protein (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ANLN transcript variant 2 NM_001284301.3:c.2772+453…

NM_001284301.3:c.2772+4532_2772+4533insG

N/A Intron Variant
ANLN transcript variant 3 NM_001284302.3:c.2769+453…

NM_001284302.3:c.2769+4532_2769+4533insG

N/A Intron Variant
ANLN transcript variant 1 NM_018685.5:c.2883+4532_2…

NM_018685.5:c.2883+4532_2883+4533insG

N/A Intron Variant
ANLN transcript variant X1 XM_006715746.3:c.2937+320…

XM_006715746.3:c.2937+3200_2937+3201insG

N/A Intron Variant
ANLN transcript variant X4 XM_006715747.5:c.2826+320…

XM_006715747.5:c.2826+3200_2826+3201insG

N/A Intron Variant
ANLN transcript variant X2 XM_017012354.3:c.2925+320…

XM_017012354.3:c.2925+3200_2925+3201insG

N/A Intron Variant
ANLN transcript variant X3 XM_017012355.3:c.2871+453…

XM_017012355.3:c.2871+4532_2871+4533insG

N/A Intron Variant
ANLN transcript variant X6 XM_017012356.3:c.2760+453…

XM_017012356.3:c.2760+4532_2760+4533insG

N/A Intron Variant
ANLN transcript variant X5 XM_047420504.1:c.2814+320…

XM_047420504.1:c.2814+3200_2814+3201insG

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 = insG
GRCh38.p14 chr 7 NC_000007.14:g.36431560_36431561= NC_000007.14:g.36431560_36431561insG
GRCh37.p13 chr 7 NC_000007.13:g.36471169_36471170= NC_000007.13:g.36471169_36471170insG
ANLN RefSeqGene NG_041770.1:g.46758_46759= NG_041770.1:g.46758_46759insG
ANLN transcript variant 2 NM_001284301.3:c.2772+4533= NM_001284301.3:c.2772+4532_2772+4533insG
ANLN transcript variant 3 NM_001284302.3:c.2769+4533= NM_001284302.3:c.2769+4532_2769+4533insG
ANLN transcript NM_018685.2:c.2883+4533= NM_018685.2:c.2883+4532_2883+4533insG
ANLN transcript variant 1 NM_018685.5:c.2883+4533= NM_018685.5:c.2883+4532_2883+4533insG
ANLN transcript variant X1 XM_005249777.1:c.2772+4533= XM_005249777.1:c.2772+4532_2772+4533insG
ANLN transcript variant X2 XM_005249778.1:c.2769+4533= XM_005249778.1:c.2769+4532_2769+4533insG
ANLN transcript variant X3 XM_005249779.1:c.1398+3201= XM_005249779.1:c.1398+3200_1398+3201insG
ANLN transcript variant X1 XM_006715746.3:c.2937+3201= XM_006715746.3:c.2937+3200_2937+3201insG
ANLN transcript variant X4 XM_006715747.5:c.2826+3201= XM_006715747.5:c.2826+3200_2826+3201insG
ANLN transcript variant X2 XM_017012354.3:c.2925+3201= XM_017012354.3:c.2925+3200_2925+3201insG
ANLN transcript variant X3 XM_017012355.3:c.2871+4533= XM_017012355.3:c.2871+4532_2871+4533insG
ANLN transcript variant X6 XM_017012356.3:c.2760+4533= XM_017012356.3:c.2760+4532_2760+4533insG
ANLN transcript variant X5 XM_047420504.1:c.2814+3201= XM_047420504.1:c.2814+3200_2814+3201insG
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#.

5 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2851849857 Jan 10, 2018 (151)
2 KOGIC ss3961239179 Apr 26, 2020 (154)
3 TOMMO_GENOMICS ss5182635553 Apr 26, 2021 (155)
4 1000G_HIGH_COVERAGE ss5272476189 Oct 13, 2022 (156)
5 TOMMO_GENOMICS ss5722322084 Oct 13, 2022 (156)
6 gnomAD - Genomes NC_000007.14 - 36431561 Apr 26, 2021 (155)
7 Korean Genome Project NC_000007.14 - 36431561 Apr 26, 2020 (154)
8 8.3KJPN NC_000007.13 - 36471170 Apr 26, 2021 (155)
9 14KJPN NC_000007.14 - 36431561 Oct 13, 2022 (156)
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
40604860, ss2851849857, ss5182635553 NC_000007.13:36471169::G NC_000007.14:36431560::G (self)
258210032, 17617180, 56159188, ss3961239179, ss5272476189, ss5722322084 NC_000007.14:36431560::G NC_000007.14:36431560::G (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 rs1491545354

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