Hs07136619_cn

• Gene Symbol: NLRP4
• Assay Reference Genome Location: Chr.19:55840941 on build GRCh38
• Cytoband: 19q13.43

Target Gene Details

• Entrez Gene ID: 147945
• Gene Name: NLR family pyrin domain containing 4
• Gene Aliases: CLR19.5, CT58, NALP4, PAN2, PYPAF4, RNH2
• Location: Chr.19:55836578-55881855 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NLRP4	NM_134444.4			NP_604393.2
	AK315003.1
	BC050326.1			AAH50326.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3644849	Chr.19:55836319 - 55989037 on Build GRCh38	Gain	NLRP8 NLRP13 NLRP4 NLRP11
esv3575075	Chr.19:55820834 - 55846724 on Build GRCh38	Gain	NLRP4 NLRP11
nsv580346	Chr.19:55735154 - 55857948 on Build GRCh38	Gain	NLRP9 RFPL4A RFPL4AL1 NLRP4 NLRP11
dgv6582n54	Chr.19:55807428 - 56027874 on Build GRCh38	Gain	NLRP8 NLRP13 NLRP4 NLRP5 NLRP11
esv3644850	Chr.19:55838221 - 55841794 on Build GRCh38	Loss	NLRP4
nsv1058122	Chr.19:55808050 - 55846760 on Build GRCh38	Gain	NLRP4 NLRP11
esv3893253	Chr.19:55805430 - 55857497 on Build GRCh38	Loss	NLRP4 NLRP11
nsv1057383	Chr.19:55699665 - 55944662 on Build GRCh38	Gain	NLRP9 RFPL4A NLRP13 RFPL4AL1 NLRP4 NLRP11

More Information

Additional Information:

For this assay, SNP(s) [rs73622417] 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)

inflammatory response
regulation of type I interferon production

Function(s)

ATP binding