Hs03931342_cn

• Gene Symbol: SLC6A2
• Assay Reference Genome Location: Chr.16:55668478 on build GRCh38
• Cytoband: 16q12.2

Target Gene Details

• Entrez Gene ID: 6530
• Gene Name: solute carrier family 6 member 2
• Gene Aliases: NAT1, NET, NET1, SLC6A5
• Location: Chr.16:55655604-55706192 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC6A2	NM_001043.3			NP_001034.1
	NM_001172501.1			NP_001165972.1
	NM_001172504.1			NP_001165975.1
	XM_006721263.2			XP_006721326.1
	XM_011523295.1			XP_011521597.1
	XM_011523296.1			XP_011521598.1
	XM_011523297.2			XP_011521599.1
	XM_011523298.1			XP_011521600.1
	AK312793.1
	AU132072.1
	M65105.1			AAA59943.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3571298	Chr.16:55605227 - 55802076 on Build GRCh38	Gain	SLC6A2 CES1P1 CES1P2
esv2758649	Chr.16:55635484 - 55949678 on Build GRCh38	Gain	CES5A SLC6A2 CES1P1 CES1P2 CES1

More Information

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

Panther Classification:

Molecular Function -

primary active transporter

Gene Ontology Categories:

Process(es)

transport
chemical synaptic transmission
monoamine transport
norepinephrine transport
response to pain
dopamine uptake involved in synaptic transmission
transmembrane transport

Function(s)

dopamine:sodium symporter activity
norepinephrine:sodium symporter activity
protein binding
monoamine transmembrane transporter activity
metal ion binding