Name: rs113129648
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.

rs113129648

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:150029404-150029417 (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: del(A)₁₂ / delAA / delA / dupA / d…
del(A)₁₂ / delAA / delA / dupA / dupAA / dupAAA / dup(A)₇ / dup(A)₁₁
Variation Type: Indel Insertion and Deletion
Frequency: dupA=0.00118 (28/23730, 14KJPN)
dupA=0.00156 (24/15390, 8.3KJPN)
delAA=0.00000 (0/11268, ALFA) (+ 3 more)
delA=0.00000 (0/11268, ALFA)
dupA=0.00000 (0/11268, ALFA)
dupAA=0.00000 (0/11268, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ACTR3C : 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	11268	AAAAAAAAAAAAAA=1.00000	AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAA=0.00000	1.0	N/A
European	Sub	7318	AAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	2568	AAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African Others	Sub	100	AAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	2468	AAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000	1.0	N/A
Asian	Sub	108	AAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000	1.0	N/A
East Asian	Sub	84	AAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	24	AAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 1	Sub	142	AAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000	1.0	N/A
Latin American 2	Sub	600	AAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	88	AAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	444	AAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
14KJPN	JAPANESE	Study-wide	23730	- No frequency provided	dupA=0.00118
8.3KJPN	JAPANESE	Study-wide	15390	- No frequency provided	dupA=0.00156
Allele Frequency Aggregator	Total	Global	11268	(A)₁₄=1.00000	delAA=0.00000, delA=0.00000, dupA=0.00000, dupAA=0.00000
Allele Frequency Aggregator	European	Sub	7318	(A)₁₄=1.0000	delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator	African	Sub	2568	(A)₁₄=1.0000	delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	600	(A)₁₄=1.000	delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Other	Sub	444	(A)₁₄=1.000	delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	142	(A)₁₄=1.000	delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Asian	Sub	108	(A)₁₄=1.000	delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	South Asian	Sub	88	(A)₁₄=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=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 7	NC_000007.14:g.150029406_150029417del
GRCh38.p14 chr 7	NC_000007.14:g.150029416_150029417del
GRCh38.p14 chr 7	NC_000007.14:g.150029417del
GRCh38.p14 chr 7	NC_000007.14:g.150029417dup
GRCh38.p14 chr 7	NC_000007.14:g.150029416_150029417dup
GRCh38.p14 chr 7	NC_000007.14:g.150029415_150029417dup
GRCh38.p14 chr 7	NC_000007.14:g.150029411_150029417dup
GRCh38.p14 chr 7	NC_000007.14:g.150029407_150029417dup
GRCh37.p13 chr 7	NC_000007.13:g.149726495_149726506del
GRCh37.p13 chr 7	NC_000007.13:g.149726505_149726506del
GRCh37.p13 chr 7	NC_000007.13:g.149726506del
GRCh37.p13 chr 7	NC_000007.13:g.149726506dup
GRCh37.p13 chr 7	NC_000007.13:g.149726505_149726506dup
GRCh37.p13 chr 7	NC_000007.13:g.149726504_149726506dup
GRCh37.p13 chr 7	NC_000007.13:g.149726500_149726506dup
GRCh37.p13 chr 7	NC_000007.13:g.149726496_149726506dup

Gene: ACTR3C, actin related protein 3C (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ACTR3C transcript variant 3	NM_001351027.2:c.53+18194… NM_001351027.2:c.53+18194_53+18205del	N/A	Intron Variant
ACTR3C transcript variant 4	NM_001351028.2:c.24-11971… NM_001351028.2:c.24-119710_24-119699del	N/A	Intron Variant
ACTR3C transcript variant 5	NM_001351029.2:c.61-13811… NM_001351029.2:c.61-138114_61-138103del	N/A	Intron Variant
ACTR3C transcript variant 6	NM_001351030.2:c.61-13811… NM_001351030.2:c.61-138114_61-138103del	N/A	Intron Variant
ACTR3C transcript variant 1	NM_001164458.2:c.	N/A	Genic Downstream Transcript Variant
ACTR3C transcript variant 2	NM_001164459.2:c.	N/A	Genic Downstream Transcript Variant
ACTR3C transcript variant 7	NR_147012.2:n.	N/A	Intron Variant
ACTR3C transcript variant 9	NR_147014.2:n.	N/A	Intron Variant
ACTR3C transcript variant 10	NR_147015.2:n.	N/A	Intron Variant
ACTR3C transcript variant 11	NR_147016.2:n.	N/A	Intron Variant
ACTR3C transcript variant 12	NR_147017.2:n.	N/A	Intron Variant
ACTR3C transcript variant 13	NR_147018.2:n.	N/A	Intron Variant
ACTR3C transcript variant 14	NR_147019.2:n.	N/A	Intron Variant
ACTR3C transcript variant 15	NR_147020.2:n.	N/A	Intron Variant
ACTR3C transcript variant 16	NR_147021.2:n.	N/A	Intron Variant
ACTR3C transcript variant 17	NR_147022.2:n.	N/A	Intron Variant
ACTR3C transcript variant 8	NR_147013.2:n.	N/A	Genic Downstream Transcript Variant
ACTR3C transcript variant X15	XM_024446884.2:c.53+18194… XM_024446884.2:c.53+18194_53+18205del	N/A	Intron Variant
ACTR3C transcript variant X11	XM_047420749.1:c.565-1370… XM_047420749.1:c.565-137017_565-137006del	N/A	Intron Variant
ACTR3C transcript variant X13	XM_047420750.1:c.53+18194… XM_047420750.1:c.53+18194_53+18205del	N/A	Intron Variant
ACTR3C transcript variant X14	XM_047420751.1:c.53+18194… XM_047420751.1:c.53+18194_53+18205del	N/A	Intron Variant
ACTR3C transcript variant X7	XM_005250043.5:c.	N/A	Genic Downstream Transcript Variant
ACTR3C transcript variant X3	XM_011516506.4:c.	N/A	Genic Downstream Transcript Variant
ACTR3C transcript variant X5	XM_011516507.3:c.	N/A	Genic Downstream Transcript Variant
ACTR3C transcript variant X6	XM_011516508.3:c.	N/A	Genic Downstream Transcript Variant
ACTR3C transcript variant X12	XM_011516511.4:c.	N/A	Genic Downstream Transcript Variant
ACTR3C transcript variant X1	XM_047420748.1:c.	N/A	Genic Downstream Transcript Variant
ACTR3C transcript variant X8	XR_007060143.1:n.	N/A	Intron Variant
ACTR3C transcript variant X9	XR_007060144.1:n.	N/A	Intron Variant
ACTR3C transcript variant X10	XR_007060145.1:n.	N/A	Intron Variant
ACTR3C transcript variant X2	XR_007060141.1:n.	N/A	Genic Downstream Transcript Variant
ACTR3C transcript variant X4	XR_007060142.1:n.	N/A	Genic Downstream 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	(A)₁₄=	del(A)₁₂	delAA	delA	dupA	dupAA	dupAAA	dup(A)₇	dup(A)₁₁
GRCh38.p14 chr 7	NC_000007.14:g.150029404_150029417=	NC_000007.14:g.150029406_150029417del	NC_000007.14:g.150029416_150029417del	NC_000007.14:g.150029417del	NC_000007.14:g.150029417dup	NC_000007.14:g.150029416_150029417dup	NC_000007.14:g.150029415_150029417dup	NC_000007.14:g.150029411_150029417dup	NC_000007.14:g.150029407_150029417dup
GRCh37.p13 chr 7	NC_000007.13:g.149726493_149726506=	NC_000007.13:g.149726495_149726506del	NC_000007.13:g.149726505_149726506del	NC_000007.13:g.149726506del	NC_000007.13:g.149726506dup	NC_000007.13:g.149726505_149726506dup	NC_000007.13:g.149726504_149726506dup	NC_000007.13:g.149726500_149726506dup	NC_000007.13:g.149726496_149726506dup
ACTR3C transcript variant 3	NM_001351027.2:c.53+18205=	NM_001351027.2:c.53+18194_53+18205del	NM_001351027.2:c.53+18204_53+18205del	NM_001351027.2:c.53+18205del	NM_001351027.2:c.53+18205dup	NM_001351027.2:c.53+18204_53+18205dup	NM_001351027.2:c.53+18203_53+18205dup	NM_001351027.2:c.53+18199_53+18205dup	NM_001351027.2:c.53+18195_53+18205dup
ACTR3C transcript variant 4	NM_001351028.2:c.24-119699=	NM_001351028.2:c.24-119710_24-119699del	NM_001351028.2:c.24-119700_24-119699del	NM_001351028.2:c.24-119699del	NM_001351028.2:c.24-119699dup	NM_001351028.2:c.24-119700_24-119699dup	NM_001351028.2:c.24-119701_24-119699dup	NM_001351028.2:c.24-119705_24-119699dup	NM_001351028.2:c.24-119709_24-119699dup
ACTR3C transcript variant 5	NM_001351029.2:c.61-138103=	NM_001351029.2:c.61-138114_61-138103del	NM_001351029.2:c.61-138104_61-138103del	NM_001351029.2:c.61-138103del	NM_001351029.2:c.61-138103dup	NM_001351029.2:c.61-138104_61-138103dup	NM_001351029.2:c.61-138105_61-138103dup	NM_001351029.2:c.61-138109_61-138103dup	NM_001351029.2:c.61-138113_61-138103dup
ACTR3C transcript variant 6	NM_001351030.2:c.61-138103=	NM_001351030.2:c.61-138114_61-138103del	NM_001351030.2:c.61-138104_61-138103del	NM_001351030.2:c.61-138103del	NM_001351030.2:c.61-138103dup	NM_001351030.2:c.61-138104_61-138103dup	NM_001351030.2:c.61-138105_61-138103dup	NM_001351030.2:c.61-138109_61-138103dup	NM_001351030.2:c.61-138113_61-138103dup
ACTR3C transcript variant X15	XM_024446884.2:c.53+18205=	XM_024446884.2:c.53+18194_53+18205del	XM_024446884.2:c.53+18204_53+18205del	XM_024446884.2:c.53+18205del	XM_024446884.2:c.53+18205dup	XM_024446884.2:c.53+18204_53+18205dup	XM_024446884.2:c.53+18203_53+18205dup	XM_024446884.2:c.53+18199_53+18205dup	XM_024446884.2:c.53+18195_53+18205dup
ACTR3C transcript variant X11	XM_047420749.1:c.565-137006=	XM_047420749.1:c.565-137017_565-137006del	XM_047420749.1:c.565-137007_565-137006del	XM_047420749.1:c.565-137006del	XM_047420749.1:c.565-137006dup	XM_047420749.1:c.565-137007_565-137006dup	XM_047420749.1:c.565-137008_565-137006dup	XM_047420749.1:c.565-137012_565-137006dup	XM_047420749.1:c.565-137016_565-137006dup
ACTR3C transcript variant X13	XM_047420750.1:c.53+18205=	XM_047420750.1:c.53+18194_53+18205del	XM_047420750.1:c.53+18204_53+18205del	XM_047420750.1:c.53+18205del	XM_047420750.1:c.53+18205dup	XM_047420750.1:c.53+18204_53+18205dup	XM_047420750.1:c.53+18203_53+18205dup	XM_047420750.1:c.53+18199_53+18205dup	XM_047420750.1:c.53+18195_53+18205dup
ACTR3C transcript variant X14	XM_047420751.1:c.53+18205=	XM_047420751.1:c.53+18194_53+18205del	XM_047420751.1:c.53+18204_53+18205del	XM_047420751.1:c.53+18205del	XM_047420751.1:c.53+18205dup	XM_047420751.1:c.53+18204_53+18205dup	XM_047420751.1:c.53+18203_53+18205dup	XM_047420751.1:c.53+18199_53+18205dup	XM_047420751.1:c.53+18195_53+18205dup

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#.

15 SubSNP, 10 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BUSHMAN	ss193953600	Jul 04, 2010 (132)
2	HAMMER_LAB	ss1805289232	Sep 08, 2015 (146)
3	GNOMAD	ss4175664375	Apr 26, 2021 (155)
4	GNOMAD	ss4175664376	Apr 26, 2021 (155)
5	GNOMAD	ss4175664377	Apr 26, 2021 (155)
6	GNOMAD	ss4175664378	Apr 26, 2021 (155)
7	GNOMAD	ss4175664379	Apr 26, 2021 (155)
8	GNOMAD	ss4175664380	Apr 26, 2021 (155)
9	GNOMAD	ss4175664381	Apr 26, 2021 (155)
10	TOMMO_GENOMICS	ss5186249674	Apr 26, 2021 (155)
11	1000G_HIGH_COVERAGE	ss5275261535	Oct 16, 2022 (156)
12	HUGCELL_USP	ss5472081149	Oct 16, 2022 (156)
13	HUGCELL_USP	ss5472081151	Oct 16, 2022 (156)
14	HUGCELL_USP	ss5472081152	Oct 16, 2022 (156)
15	TOMMO_GENOMICS	ss5727456574	Oct 16, 2022 (156)
16	gnomAD - Genomes Submission ignored due to conflicting rows: Row 280890099 (NC_000007.14:150029403::A 442/38262) Row 280890100 (NC_000007.14:150029403::AA 13/38282) Row 280890101 (NC_000007.14:150029403::AAA 1/38288)...	-	Apr 26, 2021 (155)
17	gnomAD - Genomes Submission ignored due to conflicting rows: Row 280890099 (NC_000007.14:150029403::A 442/38262) Row 280890100 (NC_000007.14:150029403::AA 13/38282) Row 280890101 (NC_000007.14:150029403::AAA 1/38288)...	-	Apr 26, 2021 (155)
18	gnomAD - Genomes Submission ignored due to conflicting rows: Row 280890099 (NC_000007.14:150029403::A 442/38262) Row 280890100 (NC_000007.14:150029403::AA 13/38282) Row 280890101 (NC_000007.14:150029403::AAA 1/38288)...	-	Apr 26, 2021 (155)
19	gnomAD - Genomes Submission ignored due to conflicting rows: Row 280890099 (NC_000007.14:150029403::A 442/38262) Row 280890100 (NC_000007.14:150029403::AA 13/38282) Row 280890101 (NC_000007.14:150029403::AAA 1/38288)...	-	Apr 26, 2021 (155)
20	gnomAD - Genomes Submission ignored due to conflicting rows: Row 280890099 (NC_000007.14:150029403::A 442/38262) Row 280890100 (NC_000007.14:150029403::AA 13/38282) Row 280890101 (NC_000007.14:150029403::AAA 1/38288)...	-	Apr 26, 2021 (155)
21	gnomAD - Genomes Submission ignored due to conflicting rows: Row 280890099 (NC_000007.14:150029403::A 442/38262) Row 280890100 (NC_000007.14:150029403::AA 13/38282) Row 280890101 (NC_000007.14:150029403::AAA 1/38288)...	-	Apr 26, 2021 (155)
22	gnomAD - Genomes Submission ignored due to conflicting rows: Row 280890099 (NC_000007.14:150029403::A 442/38262) Row 280890100 (NC_000007.14:150029403::AA 13/38282) Row 280890101 (NC_000007.14:150029403::AAA 1/38288)...	-	Apr 26, 2021 (155)
23	8.3KJPN	NC_000007.13 - 149726493	Apr 26, 2021 (155)
24	14KJPN	NC_000007.14 - 150029404	Oct 16, 2022 (156)
25	ALFA	NC_000007.14 - 150029404	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
ss5472081152	NC_000007.14:150029403:AAAAAAAAAAA… NC_000007.14:150029403:AAAAAAAAAAAA:	NC_000007.14:150029403:AAAAAAAAAAA… NC_000007.14:150029403:AAAAAAAAAAAAAA:AA
ss4175664381	NC_000007.14:150029403:AA:	NC_000007.14:150029403:AAAAAAAAAAA… NC_000007.14:150029403:AAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
2547155385	NC_000007.14:150029403:AAAAAAAAAAA… NC_000007.14:150029403:AAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000007.14:150029403:AAAAAAAAAAA… NC_000007.14:150029403:AAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4175664380, ss5275261535, ss5472081151	NC_000007.14:150029403:A:	NC_000007.14:150029403:AAAAAAAAAAA… NC_000007.14:150029403:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
2547155385	NC_000007.14:150029403:AAAAAAAAAAA… NC_000007.14:150029403:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000007.14:150029403:AAAAAAAAAAA… NC_000007.14:150029403:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss193953600	NT_007933.16:87522624:A:	NC_000007.14:150029403:AAAAAAAAAAA… NC_000007.14:150029403:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
44218981, ss1805289232, ss5186249674	NC_000007.13:149726492::A	NC_000007.14:150029403:AAAAAAAAAAA… NC_000007.14:150029403:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
61293678, ss4175664375, ss5472081149, ss5727456574	NC_000007.14:150029403::A	NC_000007.14:150029403:AAAAAAAAAAA… NC_000007.14:150029403:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
2547155385	NC_000007.14:150029403:AAAAAAAAAAA… NC_000007.14:150029403:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000007.14:150029403:AAAAAAAAAAA… NC_000007.14:150029403:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4175664376	NC_000007.14:150029403::AA	NC_000007.14:150029403:AAAAAAAAAAA… NC_000007.14:150029403:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
2547155385	NC_000007.14:150029403:AAAAAAAAAAA… NC_000007.14:150029403:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000007.14:150029403:AAAAAAAAAAA… NC_000007.14:150029403:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4175664377	NC_000007.14:150029403::AAA	NC_000007.14:150029403:AAAAAAAAAAA… NC_000007.14:150029403:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4175664378	NC_000007.14:150029403::AAAAAAA	NC_000007.14:150029403:AAAAAAAAAAA… NC_000007.14:150029403:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4175664379	NC_000007.14:150029403::AAAAAAAAAAA	NC_000007.14:150029403:AAAAAAAAAAA… NC_000007.14:150029403:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs113129648

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

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs113129648