Hs04954005_cn

• Gene Symbol: TBXAS1
• Assay Reference Genome Location: Chr.7:139779782 on build GRCh38
• Cytoband: 7q34

Target Gene Details

• Entrez Gene ID: 6916
• Gene Name: thromboxane A synthase 1
• Gene Aliases: BDPLT14, CYP5, CYP5A1, GHOSAL, THAS, TS, TXAS, TXS
• Location: Chr.7:139778248-140020325 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TBXAS1	NM_001130966.2			NP_001124438.1
	NM_001166254.1			NP_001159726.1
	AK223466.1			BAD97186.1
	BC014117.2			AAH14117.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv464732	Chr.7:139724223 - 139954457 on Build GRCh38	Gain	LOC105375532 TBXAS1 HIPK2
esv2735212	Chr.7:138060002 - 140415947 on Build GRCh38	Deletion	JHDM1D-AS1 SLC37A3 KLRG2 TTC26 MIR4468 TMEM213 LUC7L2 ZC3HAV1 LOC100129148 FMC1 AKR1D1 KIAA1549 UBN2 SVOPL HIPK2 LOC105375531 ATP6V0A4 RAB19 LOC105375532 TRIM24 ZC3HAV1L TBXAS1 PARP12 C7orf55-LUC7L2 KDM7A CLEC2L
dgv6641n100	Chr.7:139693076 - 139984244 on Build GRCh38	Gain	LOC105375531 LOC105375532 TBXAS1 HIPK2

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

isomerase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

icosanoid metabolic process
cyclooxygenase pathway
oxidation-reduction process

Function(s)

monooxygenase activity
thromboxane-A synthase activity
iron ion binding
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
heme binding
12-hydroxyheptadecatrienoic acid synthase activity