Hs00147946_cn

• Gene Symbol: PKD2L2
• Assay Reference Genome Location: Chr.5:137894396 on build GRCh38
• Cytoband: 5q31.2

Target Gene Details

• Entrez Gene ID: 27039
• Gene Name: polycystin 2 like 2, transient receptor potential cation channel
• Gene Aliases: TRPP5
• Location: Chr.5:137889420-137942747 on Build GRCh38
• Assay Gene Location: Within Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PKD2L2	NM_001258448.1	4	367	NP_001245377.1
	NM_001258449.1	4	367	NP_001245378.1
	NM_001300921.1	4	367	NP_001287850.1
	NM_014386.3	4	367	NP_055201.2
	XM_011543318.2	3	281	XP_011541620.1
	XM_011543321.1	4	301	XP_011541623.1
	XM_017009343.1	4	383	XP_016864832.1
	XM_017009344.1	3	491	XP_016864833.1
	XM_017009345.1	4	383	XP_016864834.1
	AF118125.1	4	334	AAD46478.1
	AF182034.1	4	337	AAF65622.1
	AK301924.1	4	342
	BC044581.1	4	366	AAH44581.1
	BG719682.1	4	331
	BG721989.1	4	372

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv830501	Chr.5:137788777 - 137977035 on Build GRCh38	Gain	PKD2L2 NPY6R MYOT FAM13B
esv3606913	Chr.5:137856857 - 138124533 on Build GRCh38	Gain	PKD2L2 WNT8A MYOT NME5 LOC100130172 FAM13B

More Information

Additional Information:

For this assay, SNP(s) [rs115376569] 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, DGV Variation

Panther Classification:

Molecular Function -

ion channel

Gene Ontology Categories:

Process(es)

biological_process
detection of mechanical stimulus
calcium ion transmembrane transport

Function(s)

calcium channel activity
calcium ion binding