Hs00813402_cn

• Gene Symbol: MIA-RAB4B
• Assay Reference Genome Location: Chr.19:40780441 on build GRCh38
• Cytoband: 19q13.2

Target Gene Details

• Entrez Gene ID: 100529262
• Gene Name: MIA-RAB4B readthrough (NMD candidate)
• Gene Aliases: -
• Location: Chr.19:40775537-40796944 on Build GRCh38
• Assay Gene Location: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MIA-RAB4B	NR_037775.1	5	516
	AF087861.1	4	297	AAP97171.1
	AK302147.1	6	932

Target Gene Details

• Entrez Gene ID: 53916
• Gene Name: RAB4B, member RAS oncogene family
• Gene Aliases: -
• Location: Chr.19:40778219-40796944 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RAB4B	NM_016154.4	3	311	NP_057238.3
	AF165522.1	3	277	AAD45923.1
	AF217985.1	2	1115	AAG17228.1
	AF498935.1	3	154	AAM21083.1
	BC033081.1	3	222	AAH33081.1
	BC046927.1	3	264	AAH46927.1
	BG706803.1	3	319

Target Gene Details

• Entrez Gene ID: 100529264
• Gene Name: RAB4B-EGLN2 readthrough (NMD candidate)
• Gene Aliases: RERT-lncRNA
• Location: Chr.19:40778219-40808441 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RAB4B-EGLN2	NR_037791.1	3	311
	AK291385.1	3	259

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833832	Chr.19:40754458 - 40828692 on Build GRCh38	Loss	RAB4B-EGLN2 EGLN2 RAB4B CYP2T1P MIA MIA-RAB4B SNRPA

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

small GTPase mediated signal transduction
protein transport
regulation of endocytosis
glucose import

Function(s)

molecular_function
protein binding
GTP binding