Hs00756844_cn

• Gene Symbol: SLC19A2
• Assay Reference Genome Location: Chr.1:169464402 on build GRCh38
• Cytoband: 1q24.2

Target Gene Details

• Entrez Gene ID: 10560
• Gene Name: solute carrier family 19 member 2
• Gene Aliases: TC1, THMD1, THT1, THTR1, TRMA
• Location: Chr.1:169463909-169485970 on Build GRCh38
• Assay Gene Location: Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC19A2	NM_001319667.1	5	2542	NP_001306596.1
	NM_006996.2	6	3145	NP_008927.1
	AB209540.1	2	2660	BAD92777.1
	AF135488.1	6	3101	AAD45985.1
	AF153330.1	6	3178	AAD43534.1
	AF160812.1	6	3037	AAF15129.1
	AJ237724.1	6	2951	CAB50770.1
	BC018514.1	5	2503	AAH18514.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1005941	Chr.1:169441248 - 169487155 on Build GRCh38	Loss	SLC19A2 CCDC181
nsv1001454	Chr.1:169418143 - 169496036 on Build GRCh38	Gain	SLC19A2 CCDC181
esv22143	Chr.1:169090390 - 169652030 on Build GRCh38	Gain+Loss	NME7 BLZF1 ATP1B1 LOC101928596 SLC19A2 F5 SELP CCDC181
nsv831871	Chr.1:169351435 - 169517442 on Build GRCh38	Loss	NME7 BLZF1 SLC19A2 F5 CCDC181

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

transporter

Gene Ontology Categories:

Process(es)

folic acid transport
thiamine transport
thiamine-containing compound metabolic process
thiamine transmembrane transport

Function(s)

protein binding
folic acid transporter activity
thiamine transmembrane transporter activity
thiamine uptake transmembrane transporter activity