Hs05315930_cn

• Gene Symbol: THTPA
• Assay Reference Genome Location: Chr.14:23514539 on build GRCh38
• Cytoband: 14q11.2

Target Gene Details

• Entrez Gene ID: 79178
• Gene Name: thiamine triphosphatase
• Gene Aliases: THTP, THTPASE
• Location: Chr.14:23511760-23559581 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
THTPA	NR_046051.1
	NR_046052.1
	AK090747.1
	AK094211.1
	BI488427.1
	DA218228.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv564043	Chr.14:23495437 - 23550918 on Build GRCh38	Loss	THTPA ZFHX2

More Information

Additional Information:

For this assay, SNP(s) [rs115840174] 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

Gene Ontology Categories:

Process(es)

generation of precursor metabolites and energy
thiamine metabolic process
dephosphorylation
thiamine diphosphate metabolic process
thiamine-containing compound metabolic process

Function(s)

magnesium ion binding
hydrolase activity
thiamin-triphosphatase activity