Hs06091643_cn

• Gene Symbol: SLC6A19
• Assay Reference Genome Location: Chr.5:1212884 on build GRCh38
• Cytoband: 5p15.33

Target Gene Details

• Entrez Gene ID: 340024
• Gene Name: solute carrier family 6 member 19
• Gene Aliases: B0AT1, HND
• Location: Chr.5:1201595-1225117 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC6A19	NM_001003841.2			NP_001003841.1
	AK096054.1
	AK290811.1
	AY591756.1			AAT66171.1
	AY596807.1			AAT42127.1

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
esv3894109	Chr.5:988113 - 1228100 on Build GRCh38	Gain	MIR4635 SLC6A19 CTD-3080P12.3 SLC12A7 LOC100506688 NKD2 SLC6A18
nsv4678	Chr.5:1173977 - 1219030 on Build GRCh38	Deletion	SLC6A19 CTD-3080P12.3
esv3575810	Chr.5:1055511 - 1282578 on Build GRCh38	Gain	MIR4635 SLC6A19 TERT CTD-3080P12.3 SLC12A7 SLC6A18
nsv509044	Chr.5:1147636 - 1265572 on Build GRCh38	Insertion	SLC6A19 TERT CTD-3080P12.3 SLC12A7 SLC6A18
nsv950627	Chr.5:1008886 - 1300685 on Build GRCh38	Deletion	MIR4635 SLC6A19 TERT CTD-3080P12.3 SLC12A7 NKD2 SLC6A18
nsv596629	Chr.5:457146 - 1468172 on Build GRCh38	Gain	CTD-3080P12.3 LOC100506688 ZDHHC11B BRD9 SLC6A3 LOC100996325 SLC6A19 CEP72 LPCAT1 LOC100288152 MIR4457 SLC9A3 MIR4635 TERT SLC12A7 LINC01511 NKD2 ZDHHC11 TRIP13 TPPP EXOC3 MIR4456 PP7080 CLPTM1L SLC6A18 LOC101929895
esv3603797	Chr.5:1086744 - 1259707 on Build GRCh38	Gain	SLC6A19 TERT CTD-3080P12.3 SLC12A7 SLC6A18

More Information

Additional Information:

For this assay, SNP(s) [rs74292149] 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
response to nutrient
neutral amino acid transport

Function(s)

neurotransmitter:sodium symporter activity
amino acid transmembrane transporter activity
neutral amino acid transmembrane transporter activity