Hs04781024_cn

• Gene Symbol: SLC6A11
• Assay Reference Genome Location: Chr.3:10835818 on build GRCh38
• Cytoband: 3p25.3

Target Gene Details

• Entrez Gene ID: 6538
• Gene Name: solute carrier family 6 member 11
• Gene Aliases: GAT-3, GAT3, GAT4
• Location: Chr.3:10816200-10940733 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC6A11	NM_014229.2			NP_055044.1
	XM_011534033.2			XP_011532335.1
	XM_017007073.1			XP_016862562.1
	AK312719.1
	S75989.1			AAB33570.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv436362	Chr.3:10048344 - 11860564 on Build GRCh38	Deletion	FANCD2OS FANCD2 SEC13 SLC6A11 VHL LINC00606 HRH1 GHRL ATP2B2 ATG7 GHRLOS MIR378B MIR885 LINC00852 LOC101927467 ATP2B2-IT2 SLC6A1 TATDN2 TAMM41 IRAK2 SLC6A1-AS1 VGLL4 BRK1
dgv762e201	Chr.3:10008967 - 11913136 on Build GRCh38	Deletion	FANCD2 EMC3 LOC401052 SEC13 SLC6A11 HRH1 ATG7 MIR885 FANCD2P2 CIDECP LOC101927467 SLC6A1 TATDN2 SLC6A1-AS1 VGLL4 FANCD2OS VHL LINC00606 GHRL ATP2B2 GHRLOS MIR378B LINC00852 ATP2B2-IT2 TAMM41 IRAK2 BRK1
nsv1121603	Chr.3:10071433 - 11889279 on Build GRCh38	Deletion	FANCD2OS FANCD2 SEC13 SLC6A11 VHL LINC00606 HRH1 GHRL ATP2B2 ATG7 GHRLOS MIR378B MIR885 FANCD2P2 LINC00852 LOC101927467 ATP2B2-IT2 SLC6A1 TATDN2 TAMM41 IRAK2 SLC6A1-AS1 VGLL4 BRK1
nsv3696	Chr.3:10834085 - 10867396 on Build GRCh38	Insertion	SLC6A11
nsv436869	Chr.3:10064456 - 11877985 on Build GRCh38	Insertion	FANCD2OS FANCD2 SEC13 SLC6A11 VHL LINC00606 HRH1 GHRL ATP2B2 ATG7 GHRLOS MIR378B MIR885 FANCD2P2 LINC00852 LOC101927467 ATP2B2-IT2 SLC6A1 TATDN2 TAMM41 IRAK2 SLC6A1-AS1 VGLL4 BRK1
nsv1073204	Chr.3:9996548 - 11875005 on Build GRCh38	Deletion	FANCD2 EMC3 LOC401052 SEC13 SLC6A11 HRH1 ATG7 MIR885 FANCD2P2 CIDECP LOC101927467 SLC6A1 TATDN2 SLC6A1-AS1 VGLL4 EMC3-AS1 FANCD2OS VHL LINC00606 GHRL ATP2B2 GHRLOS MIR378B LINC00852 ATP2B2-IT2 TAMM41 IRAK2 BRK1

More Information

Additional Information:

For this assay, SNP(s) [rs73035888] 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)

neurotransmitter transport
chemical synaptic transmission
brain development
gamma-aminobutyric acid transport
response to drug
transmembrane transport

Function(s)

neurotransmitter:sodium symporter activity
gamma-aminobutyric acid:sodium symporter activity
neurotransmitter binding