Hs04560725_cn

• Gene Symbol: SLC19A3
• Assay Reference Genome Location: Chr.2:227685763 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: Within Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC19A3	NM_025243.3	6	3214	NP_079519.1
	XM_005246874.3	7	3377	XP_005246931.1
	XM_011511931.2	6	3469	XP_011510233.1
	XM_011511932.1	6	3291	XP_011510234.1
	XM_011511933.1	6	3557	XP_011510235.1
	XM_017005030.1	7	3559	XP_016860519.1
	XM_017005031.1	7	3538	XP_016860520.1
	XM_017005032.1	7	3419	XP_016860521.1
	XM_017005033.1	7	3733	XP_016860522.1
	XM_017005034.1	7	3663	XP_016860523.1
	AF283317.1	7	2964	AAK69539.1

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	SLC19A3 C2orf83
nsv834561	Chr.2:227550392 - 227703283 on Build GRCh38	Gain	AGFG1 SLC19A3 LOC729968 C2orf83
esv2721563	Chr.2:227648287 - 227699345 on Build GRCh38	Deletion	SLC19A3

More Information

• Set Membership: Intragenic, 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