Hs03031922_cn

• Gene Symbol: PKD1L2
• Assay Reference Genome Location: Chr.16:81100995 on build GRCh38
• Cytoband: 16q23.2

Target Gene Details

• Entrez Gene ID: 114780
• Gene Name: polycystin 1 like 2 (gene/pseudogene)
• Gene Aliases: PC1L2
• Location: Chr.16:81100879-81220370 on Build GRCh38
• Assay Gene Location: Within Exon 44

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PKD1L2	NM_001278425.1	32	5602	NP_001265354.1
	NM_052892.3	43	7508	NP_443124.3
	NR_126532.1	43	7507
	AK131378.1	11	1896	BAD18529.1
	AL832135.1	3	5211
	AW082870.1	1	115
	AY371495.1	32	5564	AAQ73173.1
	DB306292.1	1	117

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2751615	Chr.16:81059494 - 81273994 on Build GRCh38	Gain	C16orf46 PKD1L2 BCO1 GCSH
nsv1062724	Chr.16:81018707 - 81103402 on Build GRCh38	Gain	C16orf46 PKD1L2 GCSH CENPN ATMIN
nsv1067144	Chr.16:81095693 - 81148036 on Build GRCh38	Loss	PKD1L2 GCSH
esv2422360	Chr.16:81032428 - 81147122 on Build GRCh38	Duplication	C16orf46 PKD1L2 GCSH CENPN ATMIN

More Information

Additional Information:

For this assay, SNP(s) [rs80096476] 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)

detection of mechanical stimulus
calcium ion transmembrane transport

Function(s)

calcium channel activity
calcium ion binding
carbohydrate binding