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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.

rs1484741488

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:31809070 (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>A
Variation Type
SNV Single Nucleotide Variation
Frequency
None
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PDE1C : Missense 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").

None
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.31809070C>A
GRCh37.p13 chr 7 NC_000007.13:g.31848684C>A
PDE1C RefSeqGene NG_051183.1:g.624155G>T
Gene: PDE1C, phosphodiesterase 1C (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PDE1C transcript variant 1 NM_001191056.3:c.1852G>T D [GAT] > Y [TAT] Coding Sequence Variant
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 1 NP_001177985.1:p.Asp618Tyr D (Asp) > Y (Tyr) Missense Variant
PDE1C transcript variant 2 NM_001191057.4:c.1852G>T D [GAT] > Y [TAT] Coding Sequence Variant
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 2 NP_001177986.1:p.Asp618Tyr D (Asp) > Y (Tyr) Missense Variant
PDE1C transcript variant 4 NM_005020.5:c.1852G>T D [GAT] > Y [TAT] Coding Sequence Variant
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 1 NP_005011.1:p.Asp618Tyr D (Asp) > Y (Tyr) Missense Variant
PDE1C transcript variant 3 NM_001191058.4:c.2032G>T D [GAT] > Y [TAT] Coding Sequence Variant
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 3 NP_001177987.2:p.Asp678Tyr D (Asp) > Y (Tyr) Missense Variant
PDE1C transcript variant 9 NM_001322058.2:c.2032G>T D [GAT] > Y [TAT] Coding Sequence Variant
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 4 NP_001308987.1:p.Asp678Tyr D (Asp) > Y (Tyr) Missense Variant
PDE1C transcript variant 6 NM_001322055.2:c.1852G>T D [GAT] > Y [TAT] Coding Sequence Variant
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 2 NP_001308984.1:p.Asp618Tyr D (Asp) > Y (Tyr) Missense Variant
PDE1C transcript variant 7 NM_001322056.2:c.1852G>T D [GAT] > Y [TAT] Coding Sequence Variant
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 1 NP_001308985.1:p.Asp618Tyr D (Asp) > Y (Tyr) Missense Variant
PDE1C transcript variant 5 NM_001191059.4:c.1852G>T D [GAT] > Y [TAT] Coding Sequence Variant
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 2 NP_001177988.1:p.Asp618Tyr D (Asp) > Y (Tyr) Missense Variant
PDE1C transcript variant 8 NM_001322057.2:c.1852G>T D [GAT] > Y [TAT] Coding Sequence Variant
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 1 NP_001308986.1:p.Asp618Tyr D (Asp) > Y (Tyr) Missense Variant
PDE1C transcript variant 10 NM_001322059.2:c.2257G>T D [GAT] > Y [TAT] Coding Sequence Variant
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 5 NP_001308988.1:p.Asp753Tyr D (Asp) > Y (Tyr) Missense Variant
PDE1C transcript variant X1 XM_017012264.1:c.2137G>T D [GAT] > Y [TAT] Coding Sequence Variant
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X1 XP_016867753.1:p.Asp713Tyr D (Asp) > Y (Tyr) Missense Variant
PDE1C transcript variant X4 XM_017012265.1:c.1972G>T D [GAT] > Y [TAT] Coding Sequence Variant
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X2 XP_016867754.1:p.Asp658Tyr D (Asp) > Y (Tyr) Missense Variant
PDE1C transcript variant X5 XM_017012266.2:c.2137G>T D [GAT] > Y [TAT] Coding Sequence Variant
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X3 XP_016867755.1:p.Asp713Tyr D (Asp) > Y (Tyr) Missense Variant
PDE1C transcript variant X6 XM_047420440.1:c.1852G>T D [GAT] > Y [TAT] Coding Sequence Variant
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X4 XP_047276396.1:p.Asp618Tyr D (Asp) > Y (Tyr) Missense Variant
PDE1C transcript variant X7 XM_017012267.2:c.1852G>T D [GAT] > Y [TAT] Coding Sequence Variant
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X4 XP_016867756.1:p.Asp618Tyr D (Asp) > Y (Tyr) Missense Variant
PDE1C transcript variant X9 XM_047420441.1:c.1852G>T D [GAT] > Y [TAT] Coding Sequence Variant
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X5 XP_047276397.1:p.Asp618Tyr D (Asp) > Y (Tyr) Missense Variant
PDE1C transcript variant X11 XM_047420442.1:c.1852G>T D [GAT] > Y [TAT] Coding Sequence Variant
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X5 XP_047276398.1:p.Asp618Tyr D (Asp) > Y (Tyr) Missense Variant
PDE1C transcript variant X12 XM_047420443.1:c.1852G>T D [GAT] > Y [TAT] Coding Sequence Variant
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X5 XP_047276399.1:p.Asp618Tyr D (Asp) > Y (Tyr) Missense Variant
PDE1C transcript variant X15 XM_047420444.1:c.1852G>T D [GAT] > Y [TAT] Coding Sequence Variant
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X6 XP_047276400.1:p.Asp618Tyr D (Asp) > Y (Tyr) Missense Variant
PDE1C transcript variant X16 XM_047420445.1:c.1513G>T D [GAT] > Y [TAT] Coding Sequence Variant
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X7 XP_047276401.1:p.Asp505Tyr D (Asp) > Y (Tyr) Missense Variant
PDE1C transcript variant X17 XM_047420446.1:c.1513G>T D [GAT] > Y [TAT] Coding Sequence Variant
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X8 XP_047276402.1:p.Asp505Tyr D (Asp) > Y (Tyr) Missense Variant
PDE1C transcript variant X2 XR_001744802.1:n.2152G>T N/A Non Coding Transcript Variant
PDE1C transcript variant X3 XR_001744803.1:n.2152G>T N/A Non Coding Transcript Variant
PDE1C transcript variant X10 XR_007060042.1:n.1904G>T N/A Non Coding Transcript Variant
PDE1C transcript variant X13 XR_007060043.1:n.2321G>T N/A Non Coding Transcript Variant
PDE1C transcript variant X14 XR_007060044.1:n.1904G>T N/A Non Coding Transcript Variant
PDE1C transcript variant X8 XR_007060041.1:n. N/A Genic Downstream Transcript 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= A
GRCh38.p14 chr 7 NC_000007.14:g.31809070= NC_000007.14:g.31809070C>A
GRCh37.p13 chr 7 NC_000007.13:g.31848684= NC_000007.13:g.31848684C>A
PDE1C RefSeqGene NG_051183.1:g.624155= NG_051183.1:g.624155G>T
PDE1C transcript variant 4 NM_005020.5:c.1852= NM_005020.5:c.1852G>T
PDE1C transcript variant 4 NM_005020.4:c.1852= NM_005020.4:c.1852G>T
PDE1C transcript variant 4 NM_005020.3:c.1852= NM_005020.3:c.1852G>T
PDE1C transcript variant 4 NM_005020.2:c.1852= NM_005020.2:c.1852G>T
PDE1C transcript variant 3 NM_001191058.4:c.2032= NM_001191058.4:c.2032G>T
PDE1C transcript variant 3 NM_001191058.3:c.2032= NM_001191058.3:c.2032G>T
PDE1C transcript variant 3 NM_001191058.2:c.2032= NM_001191058.2:c.2032G>T
PDE1C transcript variant 3 NM_001191058.1:c.2032= NM_001191058.1:c.2032G>T
PDE1C transcript variant 5 NM_001191059.4:c.1852= NM_001191059.4:c.1852G>T
PDE1C transcript variant 5 NM_001191059.3:c.1852= NM_001191059.3:c.1852G>T
PDE1C transcript variant 5 NM_001191059.2:c.1852= NM_001191059.2:c.1852G>T
PDE1C transcript variant 5 NM_001191059.1:c.1852= NM_001191059.1:c.1852G>T
PDE1C transcript variant 2 NM_001191057.4:c.1852= NM_001191057.4:c.1852G>T
PDE1C transcript variant 2 NM_001191057.3:c.1852= NM_001191057.3:c.1852G>T
PDE1C transcript variant 2 NM_001191057.2:c.1852= NM_001191057.2:c.1852G>T
PDE1C transcript variant 2 NM_001191057.1:c.1852= NM_001191057.1:c.1852G>T
PDE1C transcript variant 1 NM_001191056.3:c.1852= NM_001191056.3:c.1852G>T
PDE1C transcript variant 1 NM_001191056.2:c.1852= NM_001191056.2:c.1852G>T
PDE1C transcript variant 1 NM_001191056.1:c.1852= NM_001191056.1:c.1852G>T
PDE1C transcript variant 9 NM_001322058.2:c.2032= NM_001322058.2:c.2032G>T
PDE1C transcript variant 9 NM_001322058.1:c.2032= NM_001322058.1:c.2032G>T
PDE1C transcript variant 10 NM_001322059.2:c.2257= NM_001322059.2:c.2257G>T
PDE1C transcript variant 10 NM_001322059.1:c.2257= NM_001322059.1:c.2257G>T
PDE1C transcript variant 8 NM_001322057.2:c.1852= NM_001322057.2:c.1852G>T
PDE1C transcript variant 8 NM_001322057.1:c.1852= NM_001322057.1:c.1852G>T
PDE1C transcript variant 7 NM_001322056.2:c.1852= NM_001322056.2:c.1852G>T
PDE1C transcript variant 7 NM_001322056.1:c.1852= NM_001322056.1:c.1852G>T
PDE1C transcript variant 6 NM_001322055.2:c.1852= NM_001322055.2:c.1852G>T
PDE1C transcript variant 6 NM_001322055.1:c.1852= NM_001322055.1:c.1852G>T
PDE1C transcript variant X5 XM_017012266.2:c.2137= XM_017012266.2:c.2137G>T
PDE1C transcript variant X5 XM_017012266.1:c.2137= XM_017012266.1:c.2137G>T
PDE1C transcript variant X7 XM_017012267.2:c.1852= XM_017012267.2:c.1852G>T
PDE1C transcript variant X6 XM_017012267.1:c.1852= XM_017012267.1:c.1852G>T
PDE1C transcript variant X16 XM_047420445.1:c.1513= XM_047420445.1:c.1513G>T
PDE1C transcript variant X17 XM_047420446.1:c.1513= XM_047420446.1:c.1513G>T
PDE1C transcript variant X15 XM_047420444.1:c.1852= XM_047420444.1:c.1852G>T
PDE1C transcript variant X6 XM_047420440.1:c.1852= XM_047420440.1:c.1852G>T
PDE1C transcript variant X1 XM_017012264.1:c.2137= XM_017012264.1:c.2137G>T
PDE1C transcript variant X4 XM_017012265.1:c.1972= XM_017012265.1:c.1972G>T
PDE1C transcript variant X13 XR_007060043.1:n.2321= XR_007060043.1:n.2321G>T
PDE1C transcript variant X3 XR_001744803.1:n.2152= XR_001744803.1:n.2152G>T
PDE1C transcript variant X9 XM_047420441.1:c.1852= XM_047420441.1:c.1852G>T
PDE1C transcript variant X12 XM_047420443.1:c.1852= XM_047420443.1:c.1852G>T
PDE1C transcript variant X2 XR_001744802.1:n.2152= XR_001744802.1:n.2152G>T
PDE1C transcript variant X11 XM_047420442.1:c.1852= XM_047420442.1:c.1852G>T
PDE1C transcript variant X10 XR_007060042.1:n.1904= XR_007060042.1:n.1904G>T
PDE1C transcript variant X14 XR_007060044.1:n.1904= XR_007060044.1:n.1904G>T
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 1 NP_005011.1:p.Asp618= NP_005011.1:p.Asp618Tyr
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 3 NP_001177987.2:p.Asp678= NP_001177987.2:p.Asp678Tyr
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 2 NP_001177988.1:p.Asp618= NP_001177988.1:p.Asp618Tyr
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 2 NP_001177986.1:p.Asp618= NP_001177986.1:p.Asp618Tyr
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 1 NP_001177985.1:p.Asp618= NP_001177985.1:p.Asp618Tyr
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 4 NP_001308987.1:p.Asp678= NP_001308987.1:p.Asp678Tyr
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 5 NP_001308988.1:p.Asp753= NP_001308988.1:p.Asp753Tyr
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 1 NP_001308986.1:p.Asp618= NP_001308986.1:p.Asp618Tyr
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 1 NP_001308985.1:p.Asp618= NP_001308985.1:p.Asp618Tyr
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 2 NP_001308984.1:p.Asp618= NP_001308984.1:p.Asp618Tyr
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X3 XP_016867755.1:p.Asp713= XP_016867755.1:p.Asp713Tyr
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X4 XP_016867756.1:p.Asp618= XP_016867756.1:p.Asp618Tyr
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X7 XP_047276401.1:p.Asp505= XP_047276401.1:p.Asp505Tyr
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X8 XP_047276402.1:p.Asp505= XP_047276402.1:p.Asp505Tyr
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X6 XP_047276400.1:p.Asp618= XP_047276400.1:p.Asp618Tyr
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X4 XP_047276396.1:p.Asp618= XP_047276396.1:p.Asp618Tyr
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X1 XP_016867753.1:p.Asp713= XP_016867753.1:p.Asp713Tyr
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X2 XP_016867754.1:p.Asp658= XP_016867754.1:p.Asp658Tyr
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X5 XP_047276397.1:p.Asp618= XP_047276397.1:p.Asp618Tyr
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X5 XP_047276399.1:p.Asp618= XP_047276399.1:p.Asp618Tyr
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X5 XP_047276398.1:p.Asp618= XP_047276398.1:p.Asp618Tyr
calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 3 NP_001177987.1:p.Asp678= NP_001177987.1:p.Asp678Tyr
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 submission
No Submitter Submission ID Date (Build)
1 GNOMAD ss2736368900 Nov 08, 2017 (151)
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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
ss2736368900 NC_000007.13:31848683:C:A NC_000007.14:31809069:C:A (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1484741488

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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
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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