Hs06061248_cn

• Gene Symbol: SLC6A18
• Assay Reference Genome Location: Chr.5:1236686 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 4

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
nsv1024507	Chr.5:1232783 - 1269250 on Build GRCh38	Gain	SLC6A18 TERT
nsv1033961	Chr.5:1128595 - 1248239 on Build GRCh38	Gain	SLC6A19 SLC6A18 CTD-3080P12.3 SLC12A7
esv3575810	Chr.5:1055511 - 1282578 on Build GRCh38	Gain	SLC6A19 SLC6A18 MIR4635 TERT CTD-3080P12.3 SLC12A7
dgv1066e214	Chr.5:1227977 - 1245183 on Build GRCh38	Loss	SLC6A18
nsv509044	Chr.5:1147636 - 1265572 on Build GRCh38	Insertion	SLC6A19 SLC6A18 TERT CTD-3080P12.3 SLC12A7
nsv950627	Chr.5:1008886 - 1300685 on Build GRCh38	Deletion	SLC6A19 SLC6A18 MIR4635 TERT NKD2 CTD-3080P12.3 SLC12A7
nsv596629	Chr.5:457146 - 1468172 on Build GRCh38	Gain	SLC6A19 MIR4457 LOC101929895 TRIP13 MIR4635 CEP72 SLC6A18 LOC100288152 PP7080 CTD-3080P12.3 LOC100506688 ZDHHC11B LOC100996325 CLPTM1L LPCAT1 SLC6A3 SLC12A7 ZDHHC11 LINC01511 BRD9 MIR4456 TPPP TERT NKD2 SLC9A3 EXOC3
esv3603797	Chr.5:1086744 - 1259707 on Build GRCh38	Gain	SLC6A19 SLC6A18 TERT CTD-3080P12.3 SLC12A7

More Information

Additional Information:

For this assay, SNP(s) [rs111567415,rs116800353] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• 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