Hs03040365_cn

• Gene Symbol: ITIH5
• Assay Reference Genome Location: Chr.10:7562566 on build GRCh38
• Cytoband: 10p14

Target Gene Details

• Entrez Gene ID: 80760
• Gene Name: inter-alpha-trypsin inhibitor heavy chain family member 5
• Gene Aliases: ITI-HC5, PP14776
• Location: Chr.10:7559270-7666998 on Build GRCh38
• Assay Gene Location: Within Exon 17

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ITIH5	NM_030569.6	14	3452	NP_085046.5
	NM_032817.5	10	2787	NP_116206.4
	XM_011519713.2	15	3527	XP_011518015.1
	AB075833.1	11	2993	BAB85539.1
	AK075381.1	14	3426
	AL079707.1	1	175
	AL833203.1	14	3297
	AY358426.1			AAQ88792.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2761569	Chr.10:7554525 - 7564722 on Build GRCh38	Loss	ITIH5
nsv1038398	Chr.10:7501987 - 7614812 on Build GRCh38	Gain	ITIH5
nsv1038131	Chr.10:7416409 - 7706490 on Build GRCh38	Gain	ITIH2 ITIH5
esv2759732	Chr.10:7381534 - 7695776 on Build GRCh38	Loss	ITIH5 SFMBT2

More Information

Additional Information:

For this assay, SNP(s) [rs74577999] 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 -

protease inhibitor

Gene Ontology Categories:

Process(es)

negative regulation of endopeptidase activity
hyaluronan metabolic process

Function(s)

serine-type endopeptidase inhibitor activity