Hs01507481_cn

• Gene Symbol: SLC6A13
• Assay Reference Genome Location: Chr.12:220621 on build GRCh38
• Cytoband: 12p13.33

Target Gene Details

• Entrez Gene ID: 6540
• Gene Name: solute carrier family 6 member 13
• Gene Aliases: GAT-2, GAT2, GAT3
• Location: Chr.12:220621-262930 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 17

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC6A13	NM_001190997.2			NP_001177926.1
	NM_016615.4			NP_057699.2
	XM_006719008.3			XP_006719071.1
	XM_011521012.2			XP_011519314.1
	XM_011521013.1			XP_011519315.1
	XM_011521014.1			XP_011519316.1
	XM_017019842.1			XP_016875331.1
	XM_017019843.1			XP_016875332.1
	XM_017019845.1			XP_016875334.1
	AK296127.1
	AK296209.1
	BC022392.1			AAH22392.1
	BM662288.1
	DB540466.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1035539	Chr.12:119253 - 224079 on Build GRCh38	Gain	LOC574538 SLC6A12 LOC101929384 IQSEC3 SLC6A13
nsv556855	Chr.12:154673 - 226756 on Build GRCh38	Loss	SLC6A12 LOC101929384 IQSEC3 SLC6A13
nsv556861	Chr.12:184347 - 251448 on Build GRCh38	Loss	SLC6A12 LOC101929384 SLC6A13
nsv1050781	Chr.12:212187 - 674733 on Build GRCh38	Loss	NINJ2 LOC102723544 SLC6A12 KDM5A LOC100049716 CCDC77 LOC105369595 SLC6A13 B4GALNT3
nsv832302	Chr.12:57392 - 234835 on Build GRCh38	Gain	LOC574538 SLC6A12 LOC101929384 IQSEC3 SLC6A13
nsv556857	Chr.12:170292 - 268738 on Build GRCh38	Gain	LOC102723544 SLC6A12 LOC101929384 IQSEC3 SLC6A13
esv3628226	Chr.12:157297 - 251505 on Build GRCh38	Gain	SLC6A12 LOC101929384 IQSEC3 SLC6A13
esv3628221	Chr.12:114421 - 232803 on Build GRCh38	Gain	LOC574538 SLC6A12 LOC101929384 IQSEC3 SLC6A13
nsv470253	Chr.12:218255 - 250297 on Build GRCh38	Gain	SLC6A13
nsv523142	Chr.12:189877 - 223694 on Build GRCh38	Gain	SLC6A12 LOC101929384 SLC6A13
dgv1330n100	Chr.12:45001 - 233978 on Build GRCh38	Gain	LOC574538 SLC6A12 LOC101929384 IQSEC3 SLC6A13

More Information

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

Panther Classification:

Molecular Function -

primary active transporter

Gene Ontology Categories:

Process(es)

neurotransmitter transport
chemical synaptic transmission
gamma-aminobutyric acid transport
transmembrane transport

Function(s)

neurotransmitter:sodium symporter activity
gamma-aminobutyric acid:sodium symporter activity
neurotransmitter binding