Name: rs11307450
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.

rs11307450

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:35102030-35102046 (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(T)₇ / del(T)₅ / del(T)₄ / delT…
del(T)₇ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₈
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₅=0.0000 (0/7264, ALFA)
del(T)₄=0.0000 (0/7264, ALFA)
delTTT=0.0000 (0/7264, ALFA) (+ 7 more)
delTT=0.0000 (0/7264, ALFA)
delT=0.0000 (0/7264, ALFA)
dupT=0.0000 (0/7264, ALFA)
dupTT=0.0000 (0/7264, ALFA)
dupTTT=0.0000 (0/7264, ALFA)
(T)₁₇=0.4878 (2443/5008, 1000G)
delT=0.146 (72/494, NorthernSweden)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PPP2R3C : Intron Variant
LOC101927178 : 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	7264	TTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
European	Sub	4546	TTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
African	Sub	1754	TTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
African Others	Sub	68	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
African American	Sub	1686	TTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
Asian	Sub	66	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
East Asian	Sub	52	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Other Asian	Sub	14	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Latin American 1	Sub	88	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Latin American 2	Sub	464	TTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000	1.0	N/A
South Asian	Sub	46	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Other	Sub	300	TTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=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
Allele Frequency Aggregator	Total	Global	7264	(T)₁₇=1.0000	del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000
Allele Frequency Aggregator	European	Sub	4546	(T)₁₇=1.0000	del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000
Allele Frequency Aggregator	African	Sub	1754	(T)₁₇=1.0000	del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	464	(T)₁₇=1.000	del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Other	Sub	300	(T)₁₇=1.000	del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Latin American 1	Sub	88	(T)₁₇=1.00	del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator	Asian	Sub	66	(T)₁₇=1.00	del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator	South Asian	Sub	46	(T)₁₇=1.00	del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
1000Genomes	Global	Study-wide	5008	(T)₁₇=0.4878	delT=0.5122
1000Genomes	African	Sub	1322	(T)₁₇=0.5348	delT=0.4652
1000Genomes	East Asian	Sub	1008	(T)₁₇=0.3413	delT=0.6587
1000Genomes	Europe	Sub	1006	(T)₁₇=0.5487	delT=0.4513
1000Genomes	South Asian	Sub	978	(T)₁₇=0.437	delT=0.563
1000Genomes	American	Sub	694	(T)₁₇=0.595	delT=0.405
Northern Sweden	ACPOP	Study-wide	494	(T)₁₇=0.854	delT=0.146

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 14	NC_000014.9:g.35102040_35102046del
GRCh38.p14 chr 14	NC_000014.9:g.35102042_35102046del
GRCh38.p14 chr 14	NC_000014.9:g.35102043_35102046del
GRCh38.p14 chr 14	NC_000014.9:g.35102044_35102046del
GRCh38.p14 chr 14	NC_000014.9:g.35102045_35102046del
GRCh38.p14 chr 14	NC_000014.9:g.35102046del
GRCh38.p14 chr 14	NC_000014.9:g.35102046dup
GRCh38.p14 chr 14	NC_000014.9:g.35102045_35102046dup
GRCh38.p14 chr 14	NC_000014.9:g.35102044_35102046dup
GRCh38.p14 chr 14	NC_000014.9:g.35102043_35102046dup
GRCh38.p14 chr 14	NC_000014.9:g.35102042_35102046dup
GRCh38.p14 chr 14	NC_000014.9:g.35102039_35102046dup
GRCh37.p13 chr 14	NC_000014.8:g.35571246_35571252del
GRCh37.p13 chr 14	NC_000014.8:g.35571248_35571252del
GRCh37.p13 chr 14	NC_000014.8:g.35571249_35571252del
GRCh37.p13 chr 14	NC_000014.8:g.35571250_35571252del
GRCh37.p13 chr 14	NC_000014.8:g.35571251_35571252del
GRCh37.p13 chr 14	NC_000014.8:g.35571252del
GRCh37.p13 chr 14	NC_000014.8:g.35571252dup
GRCh37.p13 chr 14	NC_000014.8:g.35571251_35571252dup
GRCh37.p13 chr 14	NC_000014.8:g.35571250_35571252dup
GRCh37.p13 chr 14	NC_000014.8:g.35571249_35571252dup
GRCh37.p13 chr 14	NC_000014.8:g.35571248_35571252dup
GRCh37.p13 chr 14	NC_000014.8:g.35571245_35571252dup

Gene: PPP2R3C, protein phosphatase 2 regulatory subunit B''gamma (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PPP2R3C transcript variant 2	NM_001305155.2:c.244-2652… NM_001305155.2:c.244-2652_244-2646del	N/A	Intron Variant
PPP2R3C transcript variant 3	NM_001305156.2:c.244-2652… NM_001305156.2:c.244-2652_244-2646del	N/A	Intron Variant
PPP2R3C transcript variant 1	NM_017917.4:c.574-2652_57… NM_017917.4:c.574-2652_574-2646del	N/A	Intron Variant
PPP2R3C transcript variant 4	NR_130972.2:n.	N/A	Intron Variant
PPP2R3C transcript variant X1	XM_005267782.5:c.574-2652… XM_005267782.5:c.574-2652_574-2646del	N/A	Intron Variant
PPP2R3C transcript variant X2	XM_024449638.2:c.481-2652… XM_024449638.2:c.481-2652_481-2646del	N/A	Intron Variant
PPP2R3C transcript variant X3	XM_024449639.2:c.418-2652… XM_024449639.2:c.418-2652_418-2646del	N/A	Intron Variant
PPP2R3C transcript variant X4	XM_047431517.1:c.574-2652… XM_047431517.1:c.574-2652_574-2646del	N/A	Intron Variant

Gene: LOC101927178, uncharacterized LOC101927178 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC101927178 transcript	NR_110415.1:n.	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".

Placement	(T)₁₇=	del(T)₇	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₈
GRCh38.p14 chr 14	NC_000014.9:g.35102030_35102046=	NC_000014.9:g.35102040_35102046del	NC_000014.9:g.35102042_35102046del	NC_000014.9:g.35102043_35102046del	NC_000014.9:g.35102044_35102046del	NC_000014.9:g.35102045_35102046del	NC_000014.9:g.35102046del	NC_000014.9:g.35102046dup	NC_000014.9:g.35102045_35102046dup	NC_000014.9:g.35102044_35102046dup	NC_000014.9:g.35102043_35102046dup	NC_000014.9:g.35102042_35102046dup	NC_000014.9:g.35102039_35102046dup
GRCh37.p13 chr 14	NC_000014.8:g.35571236_35571252=	NC_000014.8:g.35571246_35571252del	NC_000014.8:g.35571248_35571252del	NC_000014.8:g.35571249_35571252del	NC_000014.8:g.35571250_35571252del	NC_000014.8:g.35571251_35571252del	NC_000014.8:g.35571252del	NC_000014.8:g.35571252dup	NC_000014.8:g.35571251_35571252dup	NC_000014.8:g.35571250_35571252dup	NC_000014.8:g.35571249_35571252dup	NC_000014.8:g.35571248_35571252dup	NC_000014.8:g.35571245_35571252dup
PPP2R3C transcript variant 2	NM_001305155.2:c.244-2646=	NM_001305155.2:c.244-2652_244-2646del	NM_001305155.2:c.244-2650_244-2646del	NM_001305155.2:c.244-2649_244-2646del	NM_001305155.2:c.244-2648_244-2646del	NM_001305155.2:c.244-2647_244-2646del	NM_001305155.2:c.244-2646del	NM_001305155.2:c.244-2646dup	NM_001305155.2:c.244-2647_244-2646dup	NM_001305155.2:c.244-2648_244-2646dup	NM_001305155.2:c.244-2649_244-2646dup	NM_001305155.2:c.244-2650_244-2646dup	NM_001305155.2:c.244-2653_244-2646dup
PPP2R3C transcript variant 3	NM_001305156.2:c.244-2646=	NM_001305156.2:c.244-2652_244-2646del	NM_001305156.2:c.244-2650_244-2646del	NM_001305156.2:c.244-2649_244-2646del	NM_001305156.2:c.244-2648_244-2646del	NM_001305156.2:c.244-2647_244-2646del	NM_001305156.2:c.244-2646del	NM_001305156.2:c.244-2646dup	NM_001305156.2:c.244-2647_244-2646dup	NM_001305156.2:c.244-2648_244-2646dup	NM_001305156.2:c.244-2649_244-2646dup	NM_001305156.2:c.244-2650_244-2646dup	NM_001305156.2:c.244-2653_244-2646dup
PPP2R3C transcript	NM_017917.2:c.574-2646=	NM_017917.2:c.574-2652_574-2646del	NM_017917.2:c.574-2650_574-2646del	NM_017917.2:c.574-2649_574-2646del	NM_017917.2:c.574-2648_574-2646del	NM_017917.2:c.574-2647_574-2646del	NM_017917.2:c.574-2646del	NM_017917.2:c.574-2646dup	NM_017917.2:c.574-2647_574-2646dup	NM_017917.2:c.574-2648_574-2646dup	NM_017917.2:c.574-2649_574-2646dup	NM_017917.2:c.574-2650_574-2646dup	NM_017917.2:c.574-2653_574-2646dup
PPP2R3C transcript variant 1	NM_017917.4:c.574-2646=	NM_017917.4:c.574-2652_574-2646del	NM_017917.4:c.574-2650_574-2646del	NM_017917.4:c.574-2649_574-2646del	NM_017917.4:c.574-2648_574-2646del	NM_017917.4:c.574-2647_574-2646del	NM_017917.4:c.574-2646del	NM_017917.4:c.574-2646dup	NM_017917.4:c.574-2647_574-2646dup	NM_017917.4:c.574-2648_574-2646dup	NM_017917.4:c.574-2649_574-2646dup	NM_017917.4:c.574-2650_574-2646dup	NM_017917.4:c.574-2653_574-2646dup
PPP2R3C transcript variant X1	XM_005267782.1:c.574-2646=	XM_005267782.1:c.574-2652_574-2646del	XM_005267782.1:c.574-2650_574-2646del	XM_005267782.1:c.574-2649_574-2646del	XM_005267782.1:c.574-2648_574-2646del	XM_005267782.1:c.574-2647_574-2646del	XM_005267782.1:c.574-2646del	XM_005267782.1:c.574-2646dup	XM_005267782.1:c.574-2647_574-2646dup	XM_005267782.1:c.574-2648_574-2646dup	XM_005267782.1:c.574-2649_574-2646dup	XM_005267782.1:c.574-2650_574-2646dup	XM_005267782.1:c.574-2653_574-2646dup
PPP2R3C transcript variant X1	XM_005267782.5:c.574-2646=	XM_005267782.5:c.574-2652_574-2646del	XM_005267782.5:c.574-2650_574-2646del	XM_005267782.5:c.574-2649_574-2646del	XM_005267782.5:c.574-2648_574-2646del	XM_005267782.5:c.574-2647_574-2646del	XM_005267782.5:c.574-2646del	XM_005267782.5:c.574-2646dup	XM_005267782.5:c.574-2647_574-2646dup	XM_005267782.5:c.574-2648_574-2646dup	XM_005267782.5:c.574-2649_574-2646dup	XM_005267782.5:c.574-2650_574-2646dup	XM_005267782.5:c.574-2653_574-2646dup
PPP2R3C transcript variant X2	XM_005267783.1:c.292-2646=	XM_005267783.1:c.292-2652_292-2646del	XM_005267783.1:c.292-2650_292-2646del	XM_005267783.1:c.292-2649_292-2646del	XM_005267783.1:c.292-2648_292-2646del	XM_005267783.1:c.292-2647_292-2646del	XM_005267783.1:c.292-2646del	XM_005267783.1:c.292-2646dup	XM_005267783.1:c.292-2647_292-2646dup	XM_005267783.1:c.292-2648_292-2646dup	XM_005267783.1:c.292-2649_292-2646dup	XM_005267783.1:c.292-2650_292-2646dup	XM_005267783.1:c.292-2653_292-2646dup
PPP2R3C transcript variant X3	XM_005267784.1:c.244-2646=	XM_005267784.1:c.244-2652_244-2646del	XM_005267784.1:c.244-2650_244-2646del	XM_005267784.1:c.244-2649_244-2646del	XM_005267784.1:c.244-2648_244-2646del	XM_005267784.1:c.244-2647_244-2646del	XM_005267784.1:c.244-2646del	XM_005267784.1:c.244-2646dup	XM_005267784.1:c.244-2647_244-2646dup	XM_005267784.1:c.244-2648_244-2646dup	XM_005267784.1:c.244-2649_244-2646dup	XM_005267784.1:c.244-2650_244-2646dup	XM_005267784.1:c.244-2653_244-2646dup
PPP2R3C transcript variant X4	XM_005267785.1:c.574-2646=	XM_005267785.1:c.574-2652_574-2646del	XM_005267785.1:c.574-2650_574-2646del	XM_005267785.1:c.574-2649_574-2646del	XM_005267785.1:c.574-2648_574-2646del	XM_005267785.1:c.574-2647_574-2646del	XM_005267785.1:c.574-2646del	XM_005267785.1:c.574-2646dup	XM_005267785.1:c.574-2647_574-2646dup	XM_005267785.1:c.574-2648_574-2646dup	XM_005267785.1:c.574-2649_574-2646dup	XM_005267785.1:c.574-2650_574-2646dup	XM_005267785.1:c.574-2653_574-2646dup
PPP2R3C transcript variant X2	XM_024449638.2:c.481-2646=	XM_024449638.2:c.481-2652_481-2646del	XM_024449638.2:c.481-2650_481-2646del	XM_024449638.2:c.481-2649_481-2646del	XM_024449638.2:c.481-2648_481-2646del	XM_024449638.2:c.481-2647_481-2646del	XM_024449638.2:c.481-2646del	XM_024449638.2:c.481-2646dup	XM_024449638.2:c.481-2647_481-2646dup	XM_024449638.2:c.481-2648_481-2646dup	XM_024449638.2:c.481-2649_481-2646dup	XM_024449638.2:c.481-2650_481-2646dup	XM_024449638.2:c.481-2653_481-2646dup
PPP2R3C transcript variant X3	XM_024449639.2:c.418-2646=	XM_024449639.2:c.418-2652_418-2646del	XM_024449639.2:c.418-2650_418-2646del	XM_024449639.2:c.418-2649_418-2646del	XM_024449639.2:c.418-2648_418-2646del	XM_024449639.2:c.418-2647_418-2646del	XM_024449639.2:c.418-2646del	XM_024449639.2:c.418-2646dup	XM_024449639.2:c.418-2647_418-2646dup	XM_024449639.2:c.418-2648_418-2646dup	XM_024449639.2:c.418-2649_418-2646dup	XM_024449639.2:c.418-2650_418-2646dup	XM_024449639.2:c.418-2653_418-2646dup
PPP2R3C transcript variant X4	XM_047431517.1:c.574-2646=	XM_047431517.1:c.574-2652_574-2646del	XM_047431517.1:c.574-2650_574-2646del	XM_047431517.1:c.574-2649_574-2646del	XM_047431517.1:c.574-2648_574-2646del	XM_047431517.1:c.574-2647_574-2646del	XM_047431517.1:c.574-2646del	XM_047431517.1:c.574-2646dup	XM_047431517.1:c.574-2647_574-2646dup	XM_047431517.1:c.574-2648_574-2646dup	XM_047431517.1:c.574-2649_574-2646dup	XM_047431517.1:c.574-2650_574-2646dup	XM_047431517.1:c.574-2653_574-2646dup

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#.

40 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40470673	Dec 03, 2013 (138)
2	HUMANGENOME_JCVI	ss95637780	Dec 05, 2013 (138)
3	HUMANGENOME_JCVI	ss96889626	Feb 13, 2009 (137)
4	BCMHGSC_JDW	ss103557364	Mar 15, 2016 (147)
5	PJP	ss294826934	May 09, 2011 (137)
6	PJP	ss294826935	May 09, 2011 (137)
7	SSMP	ss664221136	Apr 01, 2015 (144)
8	1000GENOMES	ss1373927660	Aug 21, 2014 (142)
9	MCHAISSO	ss3063789522	Nov 08, 2017 (151)
10	URBANLAB	ss3650180075	Oct 12, 2018 (152)
11	EVA_DECODE	ss3696442275	Jul 13, 2019 (153)
12	EVA_DECODE	ss3696442276	Jul 13, 2019 (153)
13	EVA_DECODE	ss3696442277	Jul 13, 2019 (153)
14	EVA_DECODE	ss3696442278	Jul 13, 2019 (153)
15	EVA_DECODE	ss3696442279	Jul 13, 2019 (153)
16	ACPOP	ss3740273999	Jul 13, 2019 (153)
17	KHV_HUMAN_GENOMES	ss3817507191	Jul 13, 2019 (153)
18	EVA	ss3833855117	Apr 27, 2020 (154)
19	KOGIC	ss3974694939	Apr 27, 2020 (154)
20	KOGIC	ss3974694940	Apr 27, 2020 (154)
21	GNOMAD	ss4275943536	Apr 27, 2021 (155)
22	GNOMAD	ss4275943537	Apr 27, 2021 (155)
23	GNOMAD	ss4275943538	Apr 27, 2021 (155)
24	GNOMAD	ss4275943539	Apr 27, 2021 (155)
25	GNOMAD	ss4275943540	Apr 27, 2021 (155)
26	GNOMAD	ss4275943541	Apr 27, 2021 (155)
27	GNOMAD	ss4275943542	Apr 27, 2021 (155)
28	GNOMAD	ss4275943543	Apr 27, 2021 (155)
29	GNOMAD	ss4275943544	Apr 27, 2021 (155)
30	TOMMO_GENOMICS	ss5212688416	Apr 27, 2021 (155)
31	TOMMO_GENOMICS	ss5212688417	Apr 27, 2021 (155)
32	TOMMO_GENOMICS	ss5212688418	Apr 27, 2021 (155)
33	HUGCELL_USP	ss5489895441	Oct 16, 2022 (156)
34	HUGCELL_USP	ss5489895442	Oct 16, 2022 (156)
35	TOMMO_GENOMICS	ss5765336312	Oct 16, 2022 (156)
36	TOMMO_GENOMICS	ss5765336314	Oct 16, 2022 (156)
37	TOMMO_GENOMICS	ss5765336315	Oct 16, 2022 (156)
38	TOMMO_GENOMICS	ss5765336316	Oct 16, 2022 (156)
39	EVA	ss5840940002	Oct 16, 2022 (156)
40	EVA	ss5840940003	Oct 16, 2022 (156)
41	1000Genomes	NC_000014.8 - 35571236	Oct 12, 2018 (152)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 447656299 (NC_000014.9:35102029::T 218/87722) Row 447656300 (NC_000014.9:35102029::TT 21/87728) Row 447656301 (NC_000014.9:35102029::TTT 2/87742)...	-	Apr 27, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 447656299 (NC_000014.9:35102029::T 218/87722) Row 447656300 (NC_000014.9:35102029::TT 21/87728) Row 447656301 (NC_000014.9:35102029::TTT 2/87742)...	-	Apr 27, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 447656299 (NC_000014.9:35102029::T 218/87722) Row 447656300 (NC_000014.9:35102029::TT 21/87728) Row 447656301 (NC_000014.9:35102029::TTT 2/87742)...	-	Apr 27, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 447656299 (NC_000014.9:35102029::T 218/87722) Row 447656300 (NC_000014.9:35102029::TT 21/87728) Row 447656301 (NC_000014.9:35102029::TTT 2/87742)...	-	Apr 27, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 447656299 (NC_000014.9:35102029::T 218/87722) Row 447656300 (NC_000014.9:35102029::TT 21/87728) Row 447656301 (NC_000014.9:35102029::TTT 2/87742)...	-	Apr 27, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 447656299 (NC_000014.9:35102029::T 218/87722) Row 447656300 (NC_000014.9:35102029::TT 21/87728) Row 447656301 (NC_000014.9:35102029::TTT 2/87742)...	-	Apr 27, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 447656299 (NC_000014.9:35102029::T 218/87722) Row 447656300 (NC_000014.9:35102029::TT 21/87728) Row 447656301 (NC_000014.9:35102029::TTT 2/87742)...	-	Apr 27, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 447656299 (NC_000014.9:35102029::T 218/87722) Row 447656300 (NC_000014.9:35102029::TT 21/87728) Row 447656301 (NC_000014.9:35102029::TTT 2/87742)...	-	Apr 27, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 447656299 (NC_000014.9:35102029::T 218/87722) Row 447656300 (NC_000014.9:35102029::TT 21/87728) Row 447656301 (NC_000014.9:35102029::TTT 2/87742)...	-	Apr 27, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 447656299 (NC_000014.9:35102029::T 218/87722) Row 447656300 (NC_000014.9:35102029::TT 21/87728) Row 447656301 (NC_000014.9:35102029::TTT 2/87742)...	-	Apr 27, 2021 (155)
52	Korean Genome Project Submission ignored due to conflicting rows: Row 31072940 (NC_000014.9:35102033:T: 619/1810) Row 31072941 (NC_000014.9:35102032:TT: 25/1810)	-	Apr 27, 2020 (154)
53	Korean Genome Project Submission ignored due to conflicting rows: Row 31072940 (NC_000014.9:35102033:T: 619/1810) Row 31072941 (NC_000014.9:35102032:TT: 25/1810)	-	Apr 27, 2020 (154)
54	Northern Sweden	NC_000014.8 - 35571236	Jul 13, 2019 (153)
55	8.3KJPN Submission ignored due to conflicting rows: Row 70657723 (NC_000014.8:35571235:T: 6228/16634) Row 70657724 (NC_000014.8:35571235:TT: 4/16634) Row 70657725 (NC_000014.8:35571235:TTTTTTT: 1/16634)	-	Apr 27, 2021 (155)
56	8.3KJPN Submission ignored due to conflicting rows: Row 70657723 (NC_000014.8:35571235:T: 6228/16634) Row 70657724 (NC_000014.8:35571235:TT: 4/16634) Row 70657725 (NC_000014.8:35571235:TTTTTTT: 1/16634)	-	Apr 27, 2021 (155)
57	8.3KJPN Submission ignored due to conflicting rows: Row 70657723 (NC_000014.8:35571235:T: 6228/16634) Row 70657724 (NC_000014.8:35571235:TT: 4/16634) Row 70657725 (NC_000014.8:35571235:TTTTTTT: 1/16634)	-	Apr 27, 2021 (155)
58	14KJPN Submission ignored due to conflicting rows: Row 99173416 (NC_000014.9:35102029:T: 10855/28096) Row 99173418 (NC_000014.9:35102029::T 12/28096) Row 99173419 (NC_000014.9:35102029:TT: 5/28096)...	-	Oct 16, 2022 (156)
59	14KJPN Submission ignored due to conflicting rows: Row 99173416 (NC_000014.9:35102029:T: 10855/28096) Row 99173418 (NC_000014.9:35102029::T 12/28096) Row 99173419 (NC_000014.9:35102029:TT: 5/28096)...	-	Oct 16, 2022 (156)
60	14KJPN Submission ignored due to conflicting rows: Row 99173416 (NC_000014.9:35102029:T: 10855/28096) Row 99173418 (NC_000014.9:35102029::T 12/28096) Row 99173419 (NC_000014.9:35102029:TT: 5/28096)...	-	Oct 16, 2022 (156)
61	14KJPN Submission ignored due to conflicting rows: Row 99173416 (NC_000014.9:35102029:T: 10855/28096) Row 99173418 (NC_000014.9:35102029::T 12/28096) Row 99173419 (NC_000014.9:35102029:TT: 5/28096)...	-	Oct 16, 2022 (156)
62	ALFA	NC_000014.9 - 35102030	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).

Associated ID	History Updated (Build)
rs34726286	May 11, 2012 (137)
rs34886456	May 23, 2006 (127)
rs71435855	May 11, 2012 (137)
rs71987031	May 11, 2012 (137)
rs71996375	May 11, 2012 (137)
rs375156119	May 13, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5212688418	NC_000014.8:35571235:TTTTTTT:	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss5765336316	NC_000014.9:35102029:TTTTTTT:	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTT
ss4275943544	NC_000014.9:35102029:TTTTT:	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
5768508203	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4275943543	NC_000014.9:35102029:TTTT:	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
5768508203	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4275943542	NC_000014.9:35102029:TTT:	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
5768508203	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss5212688417, ss5840940003	NC_000014.8:35571235:TT:	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4275943541, ss5765336315	NC_000014.9:35102029:TT:	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
5768508203	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3974694940	NC_000014.9:35102032:TT:	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss294826934	NC_000014.7:34640986:T:	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss294826935	NC_000014.7:34641002:T:	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
63482865, 13558864, ss664221136, ss1373927660, ss3740273999, ss3833855117, ss5212688416, ss5840940002	NC_000014.8:35571235:T:	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3063789522, ss3650180075, ss3696442275, ss3817507191, ss5489895441, ss5765336312	NC_000014.9:35102029:T:	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
5768508203	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3974694939	NC_000014.9:35102033:T:	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss96889626	NT_026437.12:16571235:T:	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss40470673, ss95637780, ss103557364	NT_026437.12:16571251:T:	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4275943536, ss5489895442, ss5765336314	NC_000014.9:35102029::T	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
5768508203	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3696442276	NC_000014.9:35102030::T	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss103557364	NT_026437.12:16571251:T:TT	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4275943537	NC_000014.9:35102029::TT	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
5768508203	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3696442277	NC_000014.9:35102030::TT	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4275943538	NC_000014.9:35102029::TTT	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
5768508203	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3696442278	NC_000014.9:35102030::TTT	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4275943539	NC_000014.9:35102029::TTTT	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4275943540	NC_000014.9:35102029::TTTTT	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3696442279	NC_000014.9:35102030::TTTTTTTT	NC_000014.9:35102029:TTTTTTTTTTTTT… NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs11307450

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

rs11307450