Hs02210667_cn

• Gene Symbol: CST8
• Assay Reference Genome Location: Chr.20:23491143 on build GRCh38
• Cytoband: 20p11.21

Target Gene Details

• Entrez Gene ID: 10047
• Gene Name: cystatin 8
• Gene Aliases: CRES, CTES5
• Location: Chr.20:23491077-23507124 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CST8	NM_001281730.1	1	43	NP_001268659.1
	NM_005492.3	1	43	NP_005483.1
	AA436982.1	1	43
	AF059244.1			AAC14707.1
	BX096109.1	1	42

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv585723	Chr.20:23446011 - 23588763 on Build GRCh38	Gain	CST13P CST9L CST11 CST8
esv3645525	Chr.20:23425607 - 23597079 on Build GRCh38	Gain	CSTL1 CST13P CST9L CST11 CST8
nsv1065390	Chr.20:23432253 - 23588601 on Build GRCh38	Loss	CSTL1 CST13P CST9L CST11 CST8
nsv470544	Chr.20:23444001 - 23588763 on Build GRCh38	Gain	CSTL1 CST13P CST9L CST11 CST8
nsv1063655	Chr.20:23416012 - 23509093 on Build GRCh38	Gain	CSTL1 NAPB CST11 CST8

More Information

Additional Information:

For this assay, SNP(s) [rs143039479] 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

Gene Ontology Categories:

Process(es)

negative regulation of endopeptidase activity

Function(s)

cysteine-type endopeptidase inhibitor activity