Hs00582897_cn

• Gene Symbol: PDE1C
• Assay Reference Genome Location: Chr.7:31707694 on build GRCh38
• Cytoband: 7p14.3

Target Gene Details

• Entrez Gene ID: 5137
• Gene Name: phosphodiesterase 1C
• Gene Aliases: Hcam3, cam-PDE 1C, hCam-3
• Location: Chr.7:31616777-32428224 on Build GRCh38
• Assay Gene Location:

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PDE1C

Target Gene Details

• Entrez Gene ID: 10842
• Gene Name: protein phosphatase 1 regulatory subunit 17
• Gene Aliases: C7orf16, GSBS
• Location: Chr.7:31687017-31709931 on Build GRCh38
• Assay Gene Location: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PPP1R17	NM_001145123.2	4	1052	NP_001138595.1
	NM_006658.4	5	1205	NP_006649.2
	XM_011515094.1	6	837	XP_011513396.1
	AF071789.1	4	930	AAD12588.1
	AF097730.1	4	927	AAD13030.1
	AK293478.1	4	854
	BC028094.1	5	989	AAH28094.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3612723	Chr.7:31646533 - 31888101 on Build GRCh38	Gain	PPP1R17 PDE1C CCDC129
esv3612724	Chr.7:31646828 - 31721794 on Build GRCh38	Gain	PPP1R17 PDE1C CCDC129
nsv436557	Chr.7:30288062 - 32730902 on Build GRCh38	Deletion	LOC100130673 GHRHR GGCT LINC01176 NEUROD6 GARS INMT-FAM188B PDE1C AQP1 DPY19L1P1 CCDC129 NOD1 LOC401320 DKFZP586I1420 LOC101928268 PPP1R17 AVL9 ZNRF2 CRHR2 ADCYAP1R1 INMT ZNRF2P1 MIR550B1 FAM188B MIR550A1 LSM5

More Information

Additional Information:

For this assay, SNP(s) [rs77451384] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

phosphatase modulator

Gene Ontology Categories:

Process(es)

central nervous system development
regulation of phosphatase activity
intracellular signal transduction
negative regulation of catalytic activity

Function(s)

protein serine/threonine phosphatase inhibitor activity