Hs01313710_cn

• Gene Symbol: STXBP2
• Assay Reference Genome Location: Chr.19:7638749 on build GRCh38
• Cytoband: 19p13.2

Target Gene Details

• Entrez Gene ID: 6813
• Gene Name: syntaxin binding protein 2
• Gene Aliases: FHL5, Hunc18b, MUNC18-2, UNC18-2, UNC18B, pp10122
• Location: Chr.19:7637101-7647874 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
STXBP2	NM_001127396.2			NP_001120868.1
	NM_001272034.1			NP_001258963.1
	NM_006949.3			NP_008880.2
	NR_073560.1
	XM_011528210.1			XP_011526512.1
	XM_011528212.2			XP_011526514.1
	AB002559.1			BAA19547.1
	AK222967.1			BAD96687.1
	AK222977.1			BAD96697.1
	AK302257.1
	AK303701.1
	AK314230.1
	AU098728.1
	BC002869.2			AAH02869.1
	BQ067493.1
	BT006915.1			AAP35561.1
	DA431480.1
	U63533.1			AAC50762.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv953958	Chr.19:7584715 - 7650814 on Build GRCh38	Deletion	PET100 MIR6792 XAB2 STXBP2 CAMSAP3 PCP2
nsv578511	Chr.19:7638725 - 7657750 on Build GRCh38	Gain	STXBP2
nsv833731	Chr.19:7589114 - 7739331 on Build GRCh38	Loss	PET100 CLEC4G FCER2 MIR6792 MCEMP1 TRAPPC5 XAB2 STXBP2 CAMSAP3 RETN PCP2
nsv1060887	Chr.19:7089546 - 7861087 on Build GRCh38	Gain	FCER2 MIR6792 ARHGEF18 MCEMP1 TRAPPC5 INSR PEX11G EVI5L XAB2 CLEC4GP1 CAMSAP3 PET100 ZNF358 CLEC4G LOC100128573 PNPLA6 CLEC4M C19orf45 STXBP2 RETN PCP2 LOC107985283 MCOLN1 CD209
esv2751809	Chr.19:6896369 - 7816144 on Build GRCh38	Gain	MCEMP1 ADGRE1 MBD3L4 CLEC4GP1 ZNF557 MBD3L2 MBD3L5 LOC729458 PET100 FLJ25758 LOC100128573 CLEC4M C19orf45 MBD3L3 PCP2 LOC107985283 CD209 FCER2 MIR6792 ARHGEF18 TRAPPC5 INSR PEX11G XAB2 CAMSAP3 ADGRE4P ZNF358 CLEC4G PNPLA6 STXBP2 RETN MCOLN1

More Information

Additional Information:

For this assay, SNP(s) [rs115668246] 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 -

membrane trafficking regulatory protein

Gene Ontology Categories:

Process(es)

leukocyte mediated cytotoxicity
vesicle docking involved in exocytosis
protein transport
regulation of mast cell degranulation
neutrophil degranulation

Function(s)

protein binding
syntaxin-1 binding
syntaxin-3 binding