Hs04610896_cn

• Gene Symbol: PTH2R
• Assay Reference Genome Location: Chr.2:208375873 on build GRCh38
• Cytoband: 2q34

Target Gene Details

• Entrez Gene ID: 5746
• Gene Name: parathyroid hormone 2 receptor
• Gene Aliases: PTHR2
• Location: Chr.2:208359845-208494506 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PTH2R	NM_001309516.1			NP_001296445.1
	AK294181.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv10216	Chr.2:208372424 - 208382669 on Build GRCh38	Loss	PTH2R
dgv4160n100	Chr.2:208363948 - 208382659 on Build GRCh38	Loss	PTH2R
nsv437315	Chr.2:208339990 - 208384888 on Build GRCh38	Loss	PTH2R PIKFYVE
nsv1004537	Chr.2:208372850 - 208382996 on Build GRCh38	Loss	PTH2R
esv2657801	Chr.2:208368937 - 208382498 on Build GRCh38	Deletion	PTH2R
dgv88e203	Chr.2:208372862 - 208384078 on Build GRCh38	Loss	PTH2R
esv3594114	Chr.2:208368715 - 208383261 on Build GRCh38	Loss	PTH2R
nsv584297	Chr.2:208155457 - 208452035 on Build GRCh38	Gain	IDH1 PTH2R IDH1-AS1 LOC100507443 PIKFYVE C2orf80 CRYGA
esv28670	Chr.2:208368961 - 208382607 on Build GRCh38	Loss	PTH2R
esv2421431	Chr.2:208370648 - 208382496 on Build GRCh38	Deletion	PTH2R

More Information

Additional Information:

For this assay, SNP(s) [rs78087003] 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, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

transmembrane signal receptor

Gene Ontology Categories:

Process(es)

cell surface receptor signaling pathway
G-protein coupled receptor signaling pathway

Function(s)

parathyroid hormone receptor activity
protein binding