Hs06398877_cn

• Gene Symbol: VPS36
• Assay Reference Genome Location: Chr.13:52438502 on build GRCh38
• Cytoband: 13q14.3

Target Gene Details

• Entrez Gene ID: 51028
• Gene Name: vacuolar protein sorting 36 homolog
• Gene Aliases: C13orf9, CGI-145, EAP45
• Location: Chr.13:52412602-52450678 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
VPS36	NM_001282168.1			NP_001269097.1
	NM_001282169.1			NP_001269098.1
	NM_016075.3			NP_057159.2
	AF151903.1			AAD34140.1
	AI221133.1
	AK023182.1			BAB14451.1
	AK289740.1
	BC037279.1			AAH37279.1
	BC050439.1			AAH50439.1
	BG400860.1
	BX647847.1
	CB959894.1
	CR933653.1			CAI45953.1
	DA461148.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv428288	Chr.13:52154235 - 52493997 on Build GRCh38	Loss	CKAP2 TPTE2P2 TPTE2P3 MRPS31P5 NEK3 LOC103191607 THSD1 VPS36

More Information

Additional Information:

For this assay, SNP(s) [rs74534001,rs75543299] 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 traffic protein

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
regulation of transcription, DNA-templated
autophagy
endosomal transport
multivesicular body assembly
protein targeting to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway

Function(s)

protein binding
protein C-terminus binding
phosphatidylinositol-3-phosphate binding
ubiquitin binding