Hs03806463_cn

• Gene Symbol: SLC6A12
• Assay Reference Genome Location: Chr.12:208083 on build GRCh38
• Cytoband: 12p13.33

Target Gene Details

• Entrez Gene ID: 6539
• Gene Name: solute carrier family 6 member 12
• Gene Aliases: BGT-1, BGT1, GAT2
• Location: Chr.12:190077-214523 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC6A12	NM_001122847.2			NP_001116319.1
	NM_001122848.2			NP_001116320.1
	NM_001206931.1			NP_001193860.1
	NM_003044.4			NP_003035.3
	XM_005253747.4			XP_005253804.1
	XM_005253748.4			XP_005253805.1
	XM_006719005.3			XP_006719068.1
	XM_011521010.1			XP_011519312.1
	XM_017019841.1			XP_016875330.1
	AK125026.1
	AK131564.1			BAD18697.1
	AK307167.1
	AK313690.1
	BC126215.1
	BC126217.1
	DA638367.1
	L42300.1			AAA66574.1
	U27699.1			AAA87029.1

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	SLC6A13 LOC574538 IQSEC3 SLC6A12 LOC101929384
nsv556855	Chr.12:154673 - 226756 on Build GRCh38	Loss	SLC6A13 IQSEC3 SLC6A12 LOC101929384
nsv556861	Chr.12:184347 - 251448 on Build GRCh38	Loss	SLC6A13 SLC6A12 LOC101929384
nsv832302	Chr.12:57392 - 234835 on Build GRCh38	Gain	SLC6A13 LOC574538 IQSEC3 SLC6A12 LOC101929384
nsv556856	Chr.12:170292 - 218255 on Build GRCh38	Loss	IQSEC3 SLC6A12 LOC101929384
esv3628226	Chr.12:157297 - 251505 on Build GRCh38	Gain	SLC6A13 IQSEC3 SLC6A12 LOC101929384
esv3628221	Chr.12:114421 - 232803 on Build GRCh38	Gain	SLC6A13 LOC574538 IQSEC3 SLC6A12 LOC101929384
nsv523142	Chr.12:189877 - 223694 on Build GRCh38	Gain	SLC6A13 SLC6A12 LOC101929384
dgv1330n100	Chr.12:45001 - 233978 on Build GRCh38	Gain	SLC6A13 LOC574538 IQSEC3 SLC6A12 LOC101929384

More Information

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

Panther Classification:

Molecular Function -

primary active transporter

Gene Ontology Categories:

Process(es)

amino acid transmembrane transport
transport
neurotransmitter transport
amino acid transport
chemical synaptic transmission
cellular water homeostasis
response to organic substance
gamma-aminobutyric acid transport
cellular hyperosmotic response

Function(s)

neurotransmitter:sodium symporter activity
gamma-aminobutyric acid:sodium symporter activity
protein binding
amino acid transmembrane transporter activity