Hs05896717_cn

• Gene Symbol: SLC6A1
• Assay Reference Genome Location: Chr.3:11009758 on build GRCh38
• Cytoband: 3p25.3

Target Gene Details

• Entrez Gene ID: 6529
• Gene Name: solute carrier family 6 member 1
• Gene Aliases: GABATHG, GABATR, GAT1, MAE
• Location: Chr.3:10992718-11039249 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC6A1	NM_003042.3			NP_003033.3
	XM_006713306.3			XP_006713369.1
	BC033904.1			AAH33904.1

Target Gene Details

• Entrez Gene ID: 100874090
• Gene Name: SLC6A1 antisense RNA 1
• Gene Aliases: -
• Location: Chr.3:11006098-11019224 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC6A1-AS1	NR_046647.1
	DA771774.1

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

More Information

Additional Information:

For this assay, SNP(s) [rs116033995] 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)

transport
neurotransmitter transport
chemical synaptic transmission
learning
response to toxic substance
response to sucrose
response to lead ion
positive regulation of gamma-aminobutyric acid secretion
response to purine-containing compound
gamma-aminobutyric acid transport
negative regulation of synaptic transmission, GABAergic
response to estradiol
response to cocaine
protein homooligomerization
response to calcium ion
gamma-aminobutyric acid import
transmembrane transport
mitophagy in response to mitochondrial depolarization

Function(s)

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