Hs05787136_cn

• Gene Symbol: STXBP3
• Assay Reference Genome Location: Chr.1:108774535 on build GRCh38
• Cytoband: 1p13.3

Target Gene Details

• Entrez Gene ID: 6814
• Gene Name: syntaxin binding protein 3
• Gene Aliases: MUNC18-3, MUNC18C, PSP, UNC-18C
• Location: Chr.1:108746663-108809526 on Build GRCh38
• Assay Gene Location: Within Intron 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
STXBP3	NM_007269.2			NP_009200.2
	AF032922.1			AAC69606.1
	AK223170.1			BAD96890.1
	AK290134.1
	AK291322.1
	AK312910.1
	BC038099.2			AAH38099.1
	BC047764.1			AAH47764.1
	D63506.1			BAA19482.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv947442	Chr.1:108774461 - 108781499 on Build GRCh38	Duplication	STXBP3

More Information

Additional Information:

For this assay, SNP(s) [rs74727654] 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)

vesicle docking involved in exocytosis
brain development
glucose transport
protein to membrane docking
insulin secretion
response to insulin
neutrophil degranulation
negative regulation of calcium ion-dependent exocytosis
protein heterooligomerization
platelet aggregation

Function(s)

protein binding
syntaxin-1 binding
syntaxin binding