Hs03947170_cn

• Gene Symbol: PKD1L3
• Assay Reference Genome Location: Chr.16:71943878 on build GRCh38
• Cytoband: 16q22.2

Target Gene Details

• Entrez Gene ID: 342372
• Gene Name: polycystin 1 like 3, transient receptor potential channel interacting
• Gene Aliases: -
• Location: Chr.16:71929538-72000401 on Build GRCh38
• Assay Gene Location: Within Intron 23

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PKD1L3	NM_181536.1			NP_853514.1
	XM_017023201.1			XP_016878690.1
	AY164485.1			AAO32798.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1055854	Chr.16:71888241 - 72048987 on Build GRCh38	Loss	DHODH IST1 PKD1L3 TXNL4B
esv3638985	Chr.16:71931691 - 71955811 on Build GRCh38	Loss	PKD1L3
esv2758654	Chr.16:71942441 - 72240448 on Build GRCh38	Gain	HP DHODH HPR PKD1L3 PMFBP1 TXNL4B DHX38
nsv833273	Chr.16:71937902 - 72118955 on Build GRCh38	Loss	HP DHODH HPR PKD1L3 PMFBP1 TXNL4B DHX38
nsv516948	Chr.16:71931822 - 71954829 on Build GRCh38	Loss	PKD1L3

More Information

Additional Information:

For this assay, SNP(s) [rs75867702] 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 -

ion channel

Gene Ontology Categories:

Process(es)

detection of chemical stimulus involved in sensory perception of sour taste
kidney development
cation transport
sensory perception of sour taste
detection of mechanical stimulus
calcium ion transmembrane transport
cellular response to acidic pH

Function(s)

cation channel activity
calcium channel activity
protein binding
cation transmembrane transporter activity
carbohydrate binding
sour taste receptor activity