Hs04005809_cn

• Gene Symbol: MYO5B
• Assay Reference Genome Location: Chr.18:49835720 on build GRCh38
• Cytoband: 18q21.1

Target Gene Details

• Entrez Gene ID: 4645
• Gene Name: myosin VB
• Gene Aliases: -
• Location: Chr.18:49822786-50195081 on Build GRCh38
• Assay Gene Location: Within Intron 38

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MYO5B	NM_001080467.2			NP_001073936.1
	AB032945.2
	AB290160.1
	AK025336.1			BAB15114.1
	AK093149.1
	AK301976.1
	AL133643.1
	AY274809.1			AAP42074.1
	BC033527.1

Target Gene Details

• Entrez Gene ID: 103091864
• Gene Name: small nucleolar RNA host gene 22
• Gene Aliases: SCARNA17, SCARNA17HG
• Location: Chr.18:49814023-49851059 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SNHG22	NR_117096.1
	AK123464.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv576865	Chr.18:49832262 - 49878828 on Build GRCh38	Loss	MYO5B SNHG22
nsv516056	Chr.18:49768512 - 49838635 on Build GRCh38	Gain	ACAA2 MYO5B SCARNA17 SNHG22
nsv576863	Chr.18:49569117 - 49938639 on Build GRCh38	Gain	ACAA2 LIPG MYO5B SCARNA17 SNHG22

More Information

Additional Information:

For this assay, SNP(s) [rs114197842] 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 -

actin binding motor protein

Gene Ontology Categories:

Process(es)

renal water homeostasis
protein transport
vesicle-mediated transport
endosome localization

Function(s)

microfilament motor activity
actin binding
protein binding
calmodulin binding
ATP binding
Rab GTPase binding