Hs04942934_cn

• Gene Symbol: PKD1L1
• Assay Reference Genome Location: Chr.7:47832023 on build GRCh38
• Cytoband: 7p12.3

Target Gene Details

• Entrez Gene ID: 168507
• Gene Name: polycystin 1 like 1, transient receptor potential channel interacting
• Gene Aliases: PRO19563
• Location: Chr.7:47774603-47958622 on Build GRCh38
• Assay Gene Location: Within Intron 42

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PKD1L1	NM_138295.3			NP_612152.1
	XM_017011798.1			XP_016867287.1
	AB061683.1			BAB85807.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3613069	Chr.7:47708002 - 47898700 on Build GRCh38	Gain	C7orf69 LINC00525 PKD1L1
esv3613065	Chr.7:47596195 - 48032523 on Build GRCh38	Gain	C7orf69 LINC00525 C7orf65 LINC01447 SUN3 HUS1 PKD1L1
nsv830991	Chr.7:47814932 - 47986399 on Build GRCh38	Loss	C7orf69 HUS1 PKD1L1

More Information

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

Panther Classification:

Molecular Function -

ion channel

Gene Ontology Categories:

Process(es)

detection of nodal flow
single organismal cell-cell adhesion
detection of mechanical stimulus
calcium ion transmembrane transport
left/right axis specification

Function(s)

calcium channel activity
protein binding