Hs03176203_cn

• Gene Symbol: CST2
• Assay Reference Genome Location: Chr.20:23826410 on build GRCh38
• Cytoband: 20p11.21

Target Gene Details

• Entrez Gene ID: 1470
• Gene Name: cystatin SA
• Gene Aliases: -
• Location: Chr.20:23823767-23826675 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CST2	NM_001322.2			NP_001313.1
	BC062679.1			AAH62679.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833944	Chr.20:23825651 - 24041228 on Build GRCh38	Gain	CST2 CST5 GGTLC1
esv3893323	Chr.20:23785640 - 23843219 on Build GRCh38	Loss	CST2
esv3645532	Chr.20:23766439 - 23847966 on Build GRCh38	Loss	CST2
nsv585727	Chr.20:23750775 - 23827687 on Build GRCh38	Loss	CST2 CST1
dgv783e199	Chr.20:23765468 - 23850637 on Build GRCh38	Deletion	CST2
nsv436326	Chr.20:23777132 - 23857504 on Build GRCh38	Deletion	CST2
nsv3336	Chr.20:23823444 - 23868306 on Build GRCh38	Deletion	CST2
dgv654e201	Chr.20:23702183 - 23891211 on Build GRCh38	Deletion	CST2 CST1 CST5
esv3645537	Chr.20:23821040 - 23860450 on Build GRCh38	Loss	CST2
esv2722310	Chr.20:23771157 - 23858223 on Build GRCh38	Deletion	CST2
nsv965865	Chr.20:23803466 - 23855906 on Build GRCh38	Duplication	CST2
nsv585729	Chr.20:23785459 - 23855487 on Build GRCh38	Loss	CST2
esv3893322	Chr.20:23630722 - 23961231 on Build GRCh38	Gain	CST4 CST2 CST3 CST1 CST5

More Information

Additional Information:

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

Gene Ontology Categories:

Process(es)

detection of chemical stimulus involved in sensory perception of bitter taste
negative regulation of endopeptidase activity

Function(s)

cysteine-type endopeptidase inhibitor activity
protein binding