Hs05718739_cn

• Gene Symbol: SLC6A17
• Assay Reference Genome Location: Chr.1:110176139 on build GRCh38
• Cytoband: 1p13.3

Target Gene Details

• Entrez Gene ID: 388662
• Gene Name: solute carrier family 6 member 17
• Gene Aliases: MRT48, NTT4
• Location: Chr.1:110150510-110202202 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC6A17	NM_001010898.2			NP_001010898.1
	XM_006710643.2			XP_006710706.1
	AK289982.1
	BC140908.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv2365	Chr.1:110168134 - 110177022 on Build GRCh38	Deletion	SLC6A17
nsv2354	Chr.1:110148781 - 110180477 on Build GRCh38	Insertion	SLC6A17

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
brain development
neutral amino acid transport
glycine transport
leucine transport
proline transport
alanine transport

Function(s)

neurotransmitter:sodium symporter activity
amino acid transmembrane transporter activity