Hs00390411_cn

• Gene Symbol: P2RX1
• Assay Reference Genome Location: Chr.17:3897525 on build GRCh38
• Cytoband: 17p13.2

Target Gene Details

• Entrez Gene ID: 5023
• Gene Name: purinergic receptor P2X 1
• Gene Aliases: P2X1
• Location: Chr.17:3896591-3916666 on Build GRCh38
• Assay Gene Location: Within Exon 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
P2RX1	NM_002558.3	12	1930	NP_002549.1
	XM_006721529.2	12	1719	XP_006721592.1
	XM_011523896.2	13	2382	XP_011522198.1
	XM_011523897.2	12	1830	XP_011522199.1
	XM_011523898.2	12	2443	XP_011522200.1
	XM_011523899.2	12	2434	XP_011522201.1
	AF020498.1	12	1765	AAC24494.1
	BC027949.1	11	2012	AAH27949.1
	BC044657.1	12	1705	AAH44657.1
	U45448.1	12	1685	AAC50698.1
	X83688.1	12	1662	CAA58657.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	EMC6 OR1A1 ITGAE OR1D2 OR1A2 SHPK OR3A2 MIR6776 LOC105371591 P2RX5 OR1D4 NCBP3 TRPV1 TRPV3 RAP1GAP2 CCDC92B CTNS OR1D5 GSG2 TAX1BP3 SPATA22 LOC105371592 OR3A1 LOC101927911 ATP2A3 MIR1253 OR1E2 CLUH ASPA CAMKK1 OR3A4P P2RX5-TAX1BP3 OR3A3 PAFAH1B1 OR1G1 OR1E1 P2RX1
nsv833343	Chr.17:3822173 - 3980223 on Build GRCh38	Loss	ATP2A3 NCBP3 CAMKK1 P2RX1
esv2761940	Chr.17:3767589 - 3997617 on Build GRCh38	Gain	ITGAE ATP2A3 NCBP3 CAMKK1 P2RX1
nsv521340	Chr.17:3890009 - 3976854 on Build GRCh38	Gain	ATP2A3 CAMKK1 P2RX1
nsv526126	Chr.17:3860639 - 3993513 on Build GRCh38	Loss	ATP2A3 CAMKK1 P2RX1

More Information

Additional Information:

For this assay, SNP(s) [rs117126856] 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, Exonic, DGV Variation

Panther Classification:

Molecular Function -

ligand-gated ion channel

Gene Ontology Categories:

Process(es)

serotonin secretion by platelet
regulation of vascular smooth muscle contraction
transport
ion transport
apoptotic process
activation of cysteine-type endopeptidase activity involved in apoptotic process
signal transduction
insemination
blood coagulation
regulation of blood pressure
neuronal action potential
platelet activation
response to ATP
synaptic transmission, glutamatergic
purinergic nucleotide receptor signaling pathway
vasoconstriction
positive regulation of ion transport
ceramide biosynthetic process
protein homooligomerization
protein heterooligomerization
regulation of calcium ion transport
cation transmembrane transport

Function(s)

purinergic nucleotide receptor activity
extracellular ATP-gated cation channel activity
cation channel activity
ATP binding
drug binding
zinc ion binding