Hs03961656_cn

• Gene Symbol: SLC43A2
• Assay Reference Genome Location: Chr.17:1571824 on build GRCh38
• Cytoband: 17p13.3

Target Gene Details

• Entrez Gene ID: 124935
• Gene Name: solute carrier family 43 member 2
• Gene Aliases: LAT4
• Location: Chr.17:1569254-1630014 on Build GRCh38
• Assay Gene Location: Within Exon 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC43A2	NM_001284498.1	15	5843	NP_001271427.1
	NM_001284499.1	10	5284	NP_001271428.1
	NM_001321364.1	15	5641	NP_001308293.1
	NM_001321365.1	15	5810	NP_001308294.1
	NM_152346.2	14	5629	NP_689559.1
	AK056769.1	1	721

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833334	Chr.17:1411327 - 1582381 on Build GRCh38	Loss	SLC43A2 PITPNA-AS1 MYO1C PITPNA CRK INPP5K
nsv1945	Chr.17:1560608 - 1589052 on Build GRCh38	Insertion	SLC43A2 PITPNA
esv1004030	Chr.17:1566596 - 1574887 on Build GRCh38	Deletion	SLC43A2
nsv457635	Chr.17:1554545 - 1638896 on Build GRCh38	Gain	SLC43A2 PITPNA SCARF1

More Information

Additional Information:

For this assay, SNP(s) [rs112833601] 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, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

amino acid transport
neutral amino acid transport
L-amino acid transport
L-alpha-amino acid transmembrane transport

Function(s)

amino acid transmembrane transporter activity
neutral amino acid transmembrane transporter activity
L-amino acid transmembrane transporter activity