Hs06114231_cn

• Gene Symbol: SLC6A18
• Assay Reference Genome Location: Chr.5:1229723 on build GRCh38
• Cytoband: 5p15.33

Target Gene Details

• Entrez Gene ID: 348932
• Gene Name: solute carrier family 6 member 18
• Gene Aliases: Xtrp2
• Location: Chr.5:1225355-1246189 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC6A18	NM_182632.2			NP_872438.2
	AK055798.1			BAB71018.1
	AK298257.1
	BC056757.1			AAH56757.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1033961	Chr.5:1128595 - 1248239 on Build GRCh38	Gain	CTD-3080P12.3 SLC6A19 SLC6A18 SLC12A7
dgv916e201	Chr.5:1229736 - 1230226 on Build GRCh38	Deletion	SLC6A18
esv3575810	Chr.5:1055511 - 1282578 on Build GRCh38	Gain	TERT CTD-3080P12.3 SLC6A19 SLC6A18 MIR4635 SLC12A7
dgv1066e214	Chr.5:1227977 - 1245183 on Build GRCh38	Loss	SLC6A18
nsv509044	Chr.5:1147636 - 1265572 on Build GRCh38	Insertion	TERT CTD-3080P12.3 SLC6A19 SLC6A18 SLC12A7
nsv950627	Chr.5:1008886 - 1300685 on Build GRCh38	Deletion	NKD2 TERT CTD-3080P12.3 SLC6A19 SLC6A18 MIR4635 SLC12A7
nsv596629	Chr.5:457146 - 1468172 on Build GRCh38	Gain	TERT SLC6A18 MIR4456 LOC100506688 MIR4635 PP7080 SLC6A3 SLC6A19 LPCAT1 EXOC3 CEP72 SLC12A7 NKD2 CLPTM1L CTD-3080P12.3 TPPP SLC9A3 ZDHHC11B BRD9 MIR4457 LOC100996325 ZDHHC11 LOC101929895 LOC100288152 LINC01511 TRIP13
esv3603797	Chr.5:1086744 - 1259707 on Build GRCh38	Gain	TERT CTD-3080P12.3 SLC6A19 SLC6A18 SLC12A7

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
neurotransmitter transport
amino acid transport

Function(s)

neurotransmitter:sodium symporter activity
amino acid transmembrane transporter activity