Hs02419439_cn

• Gene Symbol: SLC6A13
• Assay Reference Genome Location: Chr.12:227578 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 Intron 10 - Exon 10

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_017019844.1			XP_016875333.1
	XM_017019845.1			XP_016875334.1
	XM_017019846.1			XP_016875335.1
	XM_017019847.1			XP_016875336.1
	AK295904.1	8	837
	AK296127.1
	AK296209.1
	AK313511.1
	BC022392.1			AAH22392.1
	U76343.2			AAF64247.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv556861	Chr.12:184347 - 251448 on Build GRCh38	Loss	SLC6A13 SLC6A12 LOC101929384
esv2759875	Chr.12:225844 - 881378 on Build GRCh38	Gain+Loss	WNK1 LOC100049716 CCDC77 KDM5A LOC102723544 SLC6A13 NINJ2 B4GALNT3 LOC105369595
nsv1050781	Chr.12:212187 - 674733 on Build GRCh38	Loss	LOC100049716 CCDC77 KDM5A LOC102723544 SLC6A13 NINJ2 SLC6A12 B4GALNT3 LOC105369595
nsv832302	Chr.12:57392 - 234835 on Build GRCh38	Gain	LOC574538 IQSEC3 SLC6A13 SLC6A12 LOC101929384
nsv556857	Chr.12:170292 - 268738 on Build GRCh38	Gain	IQSEC3 LOC102723544 SLC6A13 SLC6A12 LOC101929384
esv3628226	Chr.12:157297 - 251505 on Build GRCh38	Gain	IQSEC3 SLC6A13 SLC6A12 LOC101929384
esv3628221	Chr.12:114421 - 232803 on Build GRCh38	Gain	LOC574538 IQSEC3 SLC6A13 SLC6A12 LOC101929384
esv3580006	Chr.12:227634 - 233977 on Build GRCh38	Loss	SLC6A13
nsv470253	Chr.12:218255 - 250297 on Build GRCh38	Gain	SLC6A13
dgv1330n100	Chr.12:45001 - 233978 on Build GRCh38	Gain	LOC574538 IQSEC3 SLC6A13 SLC6A12 LOC101929384

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