Hs06485998_cn

• Gene Symbol: SERPINB8
• Assay Reference Genome Location: Chr.18:63971331 on build GRCh38
• Cytoband: 18q22.1

Target Gene Details

• Entrez Gene ID: 5271
• Gene Name: serpin family B member 8
• Gene Aliases: CAP2, PI8
• Location: Chr.18:63970028-64019779 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SERPINB8	NM_001031848.1			NP_001027018.1
	NM_001276490.1			NP_001263419.1
	NM_002640.3			NP_002631.3
	NM_198833.1			NP_942130.1
	XM_006722484.2			XP_006722547.1
	XM_011526025.1			XP_011524327.1
	XM_017025790.1			XP_016881279.1
	XM_017025791.1			XP_016881280.1
	XM_017025792.1			XP_016881281.1
	AK300391.1
	AK313782.1
	AL708543.1
	BC034528.1			AAH34528.1
	BQ435307.1
	BX280409.1
	BX571754.1			CAE11879.1
	DC384755.1
	DQ656055.2
	L40377.1			AAC41939.1
	U92984.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1066552	Chr.18:63147299 - 64608176 on Build GRCh38	Gain	HMSD LOC284294 VPS4B SERPINB12 SERPINB8 KDSR SERPINB10 SERPINB13 SERPINB7 SERPINB11 BCL2 SERPINB5 SERPINB4 LINC01538 LINC00305 SERPINB2 SERPINB3
nsv833673	Chr.18:63897072 - 64097021 on Build GRCh38	Gain	HMSD SERPINB8 SERPINB10 LINC00305 SERPINB2
esv21739	Chr.18:63715122 - 64278129 on Build GRCh38	Gain	HMSD LOC284294 SERPINB8 LINC01538 SERPINB10 LINC00305 SERPINB7 SERPINB11 SERPINB2
esv3642785	Chr.18:63831255 - 63986077 on Build GRCh38	Gain	HMSD SERPINB8 SERPINB10 SERPINB2
nsv1067311	Chr.18:63818011 - 66637685 on Build GRCh38	Loss	HMSD LOC284294 SERPINB8 LINC01538 SERPINB10 CDH19 LINC00305 CDH7 SERPINB2

More Information

Additional Information:

For this assay, SNP(s) [rs76292528] 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 endopeptidase activity

Function(s)

serine-type endopeptidase inhibitor activity
protein binding