Hs05993346_cn

• Gene Symbol: SLC6A18
• Assay Reference Genome Location: Chr.5:1230958 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	SLC6A19 CTD-3080P12.3 SLC12A7 SLC6A18
esv3575810	Chr.5:1055511 - 1282578 on Build GRCh38	Gain	SLC6A19 CTD-3080P12.3 TERT SLC12A7 MIR4635 SLC6A18
esv3603801	Chr.5:1227977 - 1245040 on Build GRCh38	Gain	SLC6A18
nsv509044	Chr.5:1147636 - 1265572 on Build GRCh38	Insertion	SLC6A19 CTD-3080P12.3 TERT SLC12A7 SLC6A18
nsv596629	Chr.5:457146 - 1468172 on Build GRCh38	Gain	TPPP SLC6A19 TRIP13 CTD-3080P12.3 SLC9A3 NKD2 TERT MIR4457 MIR4456 LOC100288152 BRD9 SLC6A3 LOC100506688 LOC101929895 SLC12A7 EXOC3 MIR4635 SLC6A18 LOC100996325 LPCAT1 ZDHHC11 CLPTM1L PP7080 ZDHHC11B CEP72 LINC01511
nsv950627	Chr.5:1008886 - 1300685 on Build GRCh38	Deletion	SLC6A19 CTD-3080P12.3 NKD2 TERT SLC12A7 MIR4635 SLC6A18
esv3603797	Chr.5:1086744 - 1259707 on Build GRCh38	Gain	SLC6A19 CTD-3080P12.3 TERT SLC12A7 SLC6A18

More Information

Additional Information:

For this assay, SNP(s) [rs115631010] 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