Hs04697668_cn

• Gene Symbol: SLC19A3
• Assay Reference Genome Location: Chr.2:227706259 on build GRCh38
• Cytoband: 2q36.3

Target Gene Details

• Entrez Gene ID: 80704
• Gene Name: solute carrier family 19 member 3
• Gene Aliases: BBGD, THMD2, THTR2
• Location: Chr.2:227685210-227718030 on Build GRCh38
• Assay Gene Location: Overlaps Intron 4 - Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC19A3	NM_025243.3			NP_079519.1
	XM_005246874.3			XP_005246931.1
	XM_011511931.2			XP_011510233.1
	XM_011511932.1			XP_011510234.1
	XM_011511933.1			XP_011510235.1
	XM_017005030.1			XP_016860519.1
	XM_017005031.1			XP_016860520.1
	XM_017005032.1			XP_016860521.1
	XM_017005033.1			XP_016860522.1
	XM_017005034.1			XP_016860523.1
	AF271633.1			AAG53879.1
	AF283317.1			AAK69539.1
	AK301490.1
	AK312464.1
	BC032014.1			AAH32014.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1000263	Chr.2:227632997 - 227790216 on Build GRCh38	Gain	C2orf83 SLC19A3
nsv1009159	Chr.2:227704274 - 227745668 on Build GRCh38	Loss	SLC19A3

More Information

Additional Information:

For this assay, SNP(s) [rs78191610] 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, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

transporter

Gene Ontology Categories:

Process(es)

thiamine-containing compound metabolic process
thiamine transmembrane transport

Function(s)

thiamine transmembrane transporter activity
thiamine uptake transmembrane transporter activity