Hs06065496_cn

• Gene Symbol: SPINK6
• Assay Reference Genome Location: Chr.5:148204323 on build GRCh38
• Cytoband: 5q32

Target Gene Details

• Entrez Gene ID: 404203
• Gene Name: serine peptidase inhibitor, Kazal type 6
• Gene Aliases: BUSI2, UNQ844
• Location: Chr.5:148202794-148215137 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPINK6	NM_001195290.1			NP_001182219.1
	NM_205841.3			NP_995313.2
	AY358716.1			AAQ89078.1
	BC032003.1			AAH32003.1
	BE122852.1
	GQ504704.1
	GQ504705.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3607101	Chr.5:148020480 - 148213612 on Build GRCh38	Loss	SPINK6 SPINK5 SPINK14
esv3607102	Chr.5:148026584 - 148359140 on Build GRCh38	Loss	SPINK9 SPINK6 SPINK7 SPINK5 LOC105378220 LOC102546294 SPINK14 SPINK13
nsv830515	Chr.5:148081289 - 148222684 on Build GRCh38	Gain+Loss	SPINK6 SPINK5 SPINK14

More Information

Additional Information:

For this assay, SNP(s) [rs116094671,rs149887886] 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

Panther Classification:

Molecular Function -

protease inhibitor

Gene Ontology Categories:

Process(es)

negative regulation of serine-type endopeptidase activity

Function(s)

serine-type endopeptidase inhibitor activity