Hs06579029_cn

• Gene Symbol: PQLC2
• Assay Reference Genome Location: Chr.1:19330421 on build GRCh38
• Cytoband: 1p36.13

Target Gene Details

• Entrez Gene ID: 54896
• Gene Name: PQ loop repeat containing 2
• Gene Aliases: -
• Location: Chr.1:19312246-19332611 on Build GRCh38
• Assay Gene Location: Within Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PQLC2	NR_109848.1
	XM_005245916.2	8	2789	XP_005245973.1
	XM_006710710.2	9	2899	XP_006710773.1
	XM_006710711.2	8	2758	XP_006710774.1
	XM_011541634.2	8	3773	XP_011539936.1
	AK000327.1			BAA91088.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv21e212	Chr.1:19324106 - 19361938 on Build GRCh38	Loss	PQLC2 CAPZB
esv2674133	Chr.1:19330124 - 19334699 on Build GRCh38	Deletion	PQLC2
esv3585396	Chr.1:19330138 - 19334718 on Build GRCh38	Loss	PQLC2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

arginine transport
lysine transport
amino acid homeostasis
L-lysine transmembrane transport
arginine transmembrane transport
basic amino acid transmembrane transport

Function(s)

basic amino acid transmembrane transporter activity
arginine transmembrane transporter activity
L-lysine transmembrane transporter activity