Hs00901285_cn

• Gene Symbol: MPI
• Assay Reference Genome Location: Chr.15:74891467 on build GRCh38
• Cytoband: 15q24.1

Target Gene Details

• Entrez Gene ID: 4351
• Gene Name: mannose phosphate isomerase
• Gene Aliases: CDG1B, PMI, PMI1
• Location: Chr.15:74890011-74899457 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MPI	NM_001289155.1	3	296	NP_001276084.1
	NM_001289156.1	2	168	NP_001276085.1
	NM_001289157.1	3	296	NP_001276086.1
	NM_002435.2	3	296	NP_002426.1
	XM_011521592.1	3	372	XP_011519894.1
	XM_011521593.2	3	354	XP_011519895.1
	XM_017022207.1	3	376	XP_016877696.1
	XM_017022208.1	3	354	XP_016877697.1
	XM_017022209.1	2	143	XP_016877698.1
	AF504648.1	3	261	AAM28199.1
	AK225149.1	3	259
	AK292374.1	3	249
	AK294030.1	3	265
	AK301370.1	2	137
	AK302354.1	2	137
	BC017351.2	3	245	AAH17351.1
	BC046357.1	3	251	AAH46357.1
	BX648475.1	3	273
	CD706167.1	3	287
	X76057.1	3	238	CAA53657.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv990390	Chr.15:74886959 - 74895604 on Build GRCh38	Deletion	MPI
nsv1121512	Chr.15:72670085 - 75273877 on Build GRCh38	Deletion	LOC101929333 BBS4 C15orf59-AS1 ARID3B LOC283731 FAM219B LOC107984728 EDC3 TBC1D21 CLK3 LMAN1L SEMA7A STOML1 GOLGA6A ISLR2 C15orf59 UBL7-AS1 CYP1A2 LOC102723750 LOC732265 NPTN ADPGK PML SCAMP2 SCAMP5 LOC105376731 MPI CYP11A1 RPP25 REC114 LOXL1-AS1 ULK3 HCN4 CD276 ADPGK-AS1 MIR6882 LOC729739 HIGD2B NEO1 C15orf39 MIR4513 ISLR PPCDC CPLX3 CYP1A1 COX5A UBL7 GOLGA6C LOXL1 CCDC33 MIR6881 CSK STRA6 NPTN-IT1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

isomerase

Gene Ontology Categories:

Process(es)

GDP-mannose biosynthetic process
mannose to fructose-6-phosphate metabolic process

Function(s)

mannose-6-phosphate isomerase activity
zinc ion binding