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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.

rs1451132454

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:101917856 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000004 (1/264690, TOPMED)
T=0.00007 (1/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PPP2R5C : Missense 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 Alt HMOZ HTRZ HWEP
Total Global 14050 C=0.99993 T=0.00007 0.999858 0.0 0.000142 0
European Sub 9690 C=0.9999 T=0.0001 0.999794 0.0 0.000206 0
African Sub 2898 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 C=1.000 T=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 C=1.000 T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Sub 496 C=1.000 T=0.000 1.0 0.0 0.0 N/A


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
TopMed Global Study-wide 264690 C=0.999996 T=0.000004
Allele Frequency Aggregator Total Global 14050 C=0.99993 T=0.00007
Allele Frequency Aggregator European Sub 9690 C=0.9999 T=0.0001
Allele Frequency Aggregator African Sub 2898 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 T=0.00
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 14 NC_000014.9:g.101917856C>T
GRCh37.p13 chr 14 NC_000014.8:g.102384193C>T
PPP2R5C RefSeqGene NG_047069.1:g.162284C>T
Gene: PPP2R5C, protein phosphatase 2 regulatory subunit B'gamma (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PPP2R5C transcript variant 6 NM_001161726.2:c.1491+538…

NM_001161726.2:c.1491+5383C>T

N/A Intron Variant
PPP2R5C transcript variant 7 NM_001352912.1:c.1326+538…

NM_001352912.1:c.1326+5383C>T

N/A Intron Variant
PPP2R5C transcript variant 9 NM_001352914.2:c.1506+538…

NM_001352914.2:c.1506+5383C>T

N/A Intron Variant
PPP2R5C transcript variant 10 NM_001352916.2:c.1101+538…

NM_001352916.2:c.1101+5383C>T

N/A Intron Variant
PPP2R5C transcript variant 2 NM_178586.3:c.1326+5383C>T N/A Intron Variant
PPP2R5C transcript variant 3 NM_178587.3:c. N/A Genic Downstream Transcript Variant
PPP2R5C transcript variant 1 NM_002719.4:c.1352C>T T [ACC] > I [ATC] Coding Sequence Variant
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform a NP_002710.2:p.Thr451Ile T (Thr) > I (Ile) Missense Variant
PPP2R5C transcript variant 8 NM_001352913.2:c.1517C>T T [ACC] > I [ATC] Coding Sequence Variant
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform g NP_001339842.1:p.Thr506Ile T (Thr) > I (Ile) Missense Variant
PPP2R5C transcript variant 11 NM_001352915.2:c.1127C>T T [ACC] > I [ATC] Coding Sequence Variant
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform j NP_001339844.1:p.Thr376Ile T (Thr) > I (Ile) Missense Variant
PPP2R5C transcript variant 5 NM_001161725.2:c.1445C>T T [ACC] > I [ATC] Coding Sequence Variant
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform e NP_001155197.1:p.Thr482Ile T (Thr) > I (Ile) Missense Variant
PPP2R5C transcript variant X3 XM_005267824.2:c.1434-728…

XM_005267824.2:c.1434-7285C>T

N/A Intron Variant
PPP2R5C transcript variant X10 XM_017021423.3:c.1254-728…

XM_017021423.3:c.1254-7285C>T

N/A Intron Variant
PPP2R5C transcript variant X8 XM_047431533.1:c.1380+538…

XM_047431533.1:c.1380+5383C>T

N/A Intron Variant
PPP2R5C transcript variant X9 XM_047431534.1:c.1308-728…

XM_047431534.1:c.1308-7285C>T

N/A Intron Variant
PPP2R5C transcript variant X11 XM_047431535.1:c.1206-728…

XM_047431535.1:c.1206-7285C>T

N/A Intron Variant
PPP2R5C transcript variant X18 XM_047431540.1:c.1101+538…

XM_047431540.1:c.1101+5383C>T

N/A Intron Variant
PPP2R5C transcript variant X1 XM_005267819.2:c.1532C>T T [ACC] > I [ATC] Coding Sequence Variant
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform X1 XP_005267876.1:p.Thr511Ile T (Thr) > I (Ile) Missense Variant
PPP2R5C transcript variant X2 XM_047431530.1:c.1406C>T T [ACC] > I [ATC] Coding Sequence Variant
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform X2 XP_047287486.1:p.Thr469Ile T (Thr) > I (Ile) Missense Variant
PPP2R5C transcript variant X4 XM_047431531.1:c.1325C>T T [ACC] > I [ATC] Coding Sequence Variant
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform X4 XP_047287487.1:p.Thr442Ile T (Thr) > I (Ile) Missense Variant
PPP2R5C transcript variant X5 XM_047431532.1:c.1325C>T T [ACC] > I [ATC] Coding Sequence Variant
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform X4 XP_047287488.1:p.Thr442Ile T (Thr) > I (Ile) Missense Variant
PPP2R5C transcript variant X6 XM_011536918.2:c.1304C>T T [ACC] > I [ATC] Coding Sequence Variant
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform X5 XP_011535220.1:p.Thr435Ile T (Thr) > I (Ile) Missense Variant
PPP2R5C transcript variant X7 XM_005267826.2:c.1280C>T T [ACC] > I [ATC] Coding Sequence Variant
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform X6 XP_005267883.1:p.Thr427Ile T (Thr) > I (Ile) Missense Variant
PPP2R5C transcript variant X12 XM_005267827.2:c.1127C>T T [ACC] > I [ATC] Coding Sequence Variant
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform X11 XP_005267884.1:p.Thr376Ile T (Thr) > I (Ile) Missense Variant
PPP2R5C transcript variant X13 XM_047431536.1:c.1127C>T T [ACC] > I [ATC] Coding Sequence Variant
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform X11 XP_047287492.1:p.Thr376Ile T (Thr) > I (Ile) Missense Variant
PPP2R5C transcript variant X14 XM_047431537.1:c.1127C>T T [ACC] > I [ATC] Coding Sequence Variant
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform X11 XP_047287493.1:p.Thr376Ile T (Thr) > I (Ile) Missense Variant
PPP2R5C transcript variant X15 XM_047431538.1:c.1127C>T T [ACC] > I [ATC] Coding Sequence Variant
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform X11 XP_047287494.1:p.Thr376Ile T (Thr) > I (Ile) Missense Variant
PPP2R5C transcript variant X16 XM_011536920.2:c.1127C>T T [ACC] > I [ATC] Coding Sequence Variant
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform X11 XP_011535222.1:p.Thr376Ile T (Thr) > I (Ile) Missense Variant
PPP2R5C transcript variant X17 XM_047431539.1:c.1127C>T T [ACC] > I [ATC] Coding Sequence Variant
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform X11 XP_047287495.1:p.Thr376Ile T (Thr) > I (Ile) Missense Variant
PPP2R5C transcript variant X19 XM_047431541.1:c.1127C>T T [ACC] > I [ATC] Coding Sequence Variant
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform X11 XP_047287497.1:p.Thr376Ile T (Thr) > I (Ile) Missense 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 C= T
GRCh38.p14 chr 14 NC_000014.9:g.101917856= NC_000014.9:g.101917856C>T
GRCh37.p13 chr 14 NC_000014.8:g.102384193= NC_000014.8:g.102384193C>T
PPP2R5C RefSeqGene NG_047069.1:g.162284= NG_047069.1:g.162284C>T
PPP2R5C transcript variant 1 NM_002719.4:c.1352= NM_002719.4:c.1352C>T
PPP2R5C transcript variant 1 NM_002719.3:c.1352= NM_002719.3:c.1352C>T
PPP2R5C transcript variant 8 NM_001352913.2:c.1517= NM_001352913.2:c.1517C>T
PPP2R5C transcript variant 8 NM_001352913.1:c.1517= NM_001352913.1:c.1517C>T
PPP2R5C transcript variant 5 NM_001161725.2:c.1445= NM_001161725.2:c.1445C>T
PPP2R5C transcript variant 5 NM_001161725.1:c.1445= NM_001161725.1:c.1445C>T
PPP2R5C transcript variant 11 NM_001352915.2:c.1127= NM_001352915.2:c.1127C>T
PPP2R5C transcript variant 11 NM_001352915.1:c.1127= NM_001352915.1:c.1127C>T
PPP2R5C transcript variant X6 XM_011536918.2:c.1304= XM_011536918.2:c.1304C>T
PPP2R5C transcript variant X4 XM_011536918.1:c.1304= XM_011536918.1:c.1304C>T
PPP2R5C transcript variant X1 XM_005267819.2:c.1532= XM_005267819.2:c.1532C>T
PPP2R5C transcript variant X1 XM_005267819.1:c.1532= XM_005267819.1:c.1532C>T
PPP2R5C transcript variant X7 XM_005267826.2:c.1280= XM_005267826.2:c.1280C>T
PPP2R5C transcript variant X5 XM_005267826.1:c.1280= XM_005267826.1:c.1280C>T
PPP2R5C transcript variant X16 XM_011536920.2:c.1127= XM_011536920.2:c.1127C>T
PPP2R5C transcript variant X8 XM_011536920.1:c.1127= XM_011536920.1:c.1127C>T
PPP2R5C transcript variant X12 XM_005267827.2:c.1127= XM_005267827.2:c.1127C>T
PPP2R5C transcript variant X7 XM_005267827.1:c.1127= XM_005267827.1:c.1127C>T
PPP2R5C transcript variant X13 XM_047431536.1:c.1127= XM_047431536.1:c.1127C>T
PPP2R5C transcript variant X14 XM_047431537.1:c.1127= XM_047431537.1:c.1127C>T
PPP2R5C transcript variant X17 XM_047431539.1:c.1127= XM_047431539.1:c.1127C>T
PPP2R5C transcript variant X15 XM_047431538.1:c.1127= XM_047431538.1:c.1127C>T
PPP2R5C transcript variant X5 XM_047431532.1:c.1325= XM_047431532.1:c.1325C>T
PPP2R5C transcript variant X4 XM_047431531.1:c.1325= XM_047431531.1:c.1325C>T
PPP2R5C transcript variant X2 XM_047431530.1:c.1406= XM_047431530.1:c.1406C>T
PPP2R5C transcript variant X19 XM_047431541.1:c.1127= XM_047431541.1:c.1127C>T
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform a NP_002710.2:p.Thr451= NP_002710.2:p.Thr451Ile
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform g NP_001339842.1:p.Thr506= NP_001339842.1:p.Thr506Ile
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform e NP_001155197.1:p.Thr482= NP_001155197.1:p.Thr482Ile
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform j NP_001339844.1:p.Thr376= NP_001339844.1:p.Thr376Ile
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform X5 XP_011535220.1:p.Thr435= XP_011535220.1:p.Thr435Ile
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform X1 XP_005267876.1:p.Thr511= XP_005267876.1:p.Thr511Ile
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform X6 XP_005267883.1:p.Thr427= XP_005267883.1:p.Thr427Ile
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform X11 XP_011535222.1:p.Thr376= XP_011535222.1:p.Thr376Ile
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform X11 XP_005267884.1:p.Thr376= XP_005267884.1:p.Thr376Ile
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform X11 XP_047287492.1:p.Thr376= XP_047287492.1:p.Thr376Ile
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform X11 XP_047287493.1:p.Thr376= XP_047287493.1:p.Thr376Ile
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform X11 XP_047287495.1:p.Thr376= XP_047287495.1:p.Thr376Ile
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform X11 XP_047287494.1:p.Thr376= XP_047287494.1:p.Thr376Ile
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform X4 XP_047287488.1:p.Thr442= XP_047287488.1:p.Thr442Ile
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform X4 XP_047287487.1:p.Thr442= XP_047287487.1:p.Thr442Ile
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform X2 XP_047287486.1:p.Thr469= XP_047287486.1:p.Thr469Ile
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform X11 XP_047287497.1:p.Thr376= XP_047287497.1:p.Thr376Ile
PPP2R5C transcript variant 6 NM_001161726.1:c.1491+5383= NM_001161726.1:c.1491+5383C>T
PPP2R5C transcript variant 6 NM_001161726.2:c.1491+5383= NM_001161726.2:c.1491+5383C>T
PPP2R5C transcript variant 7 NM_001352912.1:c.1326+5383= NM_001352912.1:c.1326+5383C>T
PPP2R5C transcript variant 9 NM_001352914.2:c.1506+5383= NM_001352914.2:c.1506+5383C>T
PPP2R5C transcript variant 10 NM_001352916.2:c.1101+5383= NM_001352916.2:c.1101+5383C>T
PPP2R5C transcript variant 2 NM_178586.2:c.1326+5383= NM_178586.2:c.1326+5383C>T
PPP2R5C transcript variant 2 NM_178586.3:c.1326+5383= NM_178586.3:c.1326+5383C>T
PPP2R5C transcript variant X4 XM_005267823.1:c.1506+5383= XM_005267823.1:c.1506+5383C>T
PPP2R5C transcript variant X3 XM_005267824.1:c.1434-7285= XM_005267824.1:c.1434-7285C>T
PPP2R5C transcript variant X3 XM_005267824.2:c.1434-7285= XM_005267824.2:c.1434-7285C>T
PPP2R5C transcript variant X10 XM_017021423.3:c.1254-7285= XM_017021423.3:c.1254-7285C>T
PPP2R5C transcript variant X8 XM_047431533.1:c.1380+5383= XM_047431533.1:c.1380+5383C>T
PPP2R5C transcript variant X9 XM_047431534.1:c.1308-7285= XM_047431534.1:c.1308-7285C>T
PPP2R5C transcript variant X11 XM_047431535.1:c.1206-7285= XM_047431535.1:c.1206-7285C>T
PPP2R5C transcript variant X18 XM_047431540.1:c.1101+5383= XM_047431540.1:c.1101+5383C>T
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#.

1 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 TOPMED ss4982924599 Apr 27, 2021 (155)
2 TopMed NC_000014.9 - 101917856 Apr 27, 2021 (155)
3 ALFA NC_000014.9 - 101917856 Apr 27, 2021 (155)
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
198470258, 848488212, ss4982924599 NC_000014.9:101917855:C:T NC_000014.9:101917855:C:T (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 rs1451132454

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