Hs05568863_cn

• Gene Symbol: MB
• Assay Reference Genome Location: Chr.22:35608042 on build GRCh38
• Cytoband: 22q12.3

Target Gene Details

• Entrez Gene ID: 4151
• Gene Name: myoglobin
• Gene Aliases: PVALB, myoglobgin
• Location: Chr.22:35606764-35623354 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MB	NM_005368.2			NP_005359.1
	NM_203377.1			NP_976311.1
	NM_203378.1			NP_976312.1
	XM_005261605.2			XP_005261662.1
	AK300657.1
	AK314057.1
	BC014547.1			AAH14547.1
	BC018001.1			AAH18001.1
	BU585249.1
	CB140824.1
	CR456516.1			CAG30402.1
	CR541949.1			CAG46747.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv510806	Chr.22:35599609 - 35636220 on Build GRCh38	Deletion	MB LOC284912
nsv834184	Chr.22:35502044 - 35621639 on Build GRCh38	Loss	MB RASD2

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

response to hypoxia
heart development
response to hormone
oxygen transport
slow-twitch skeletal muscle fiber contraction
response to hydrogen peroxide
enucleate erythrocyte differentiation
brown fat cell differentiation

Function(s)

oxygen transporter activity
oxygen binding
heme binding
metal ion binding