Hs02960565_cn

• Gene Symbol: PMM2
• Assay Reference Genome Location: Chr.16:8847934 on build GRCh38
• Cytoband: 16p13.2

Target Gene Details

• Entrez Gene ID: 5373
• Gene Name: phosphomannomutase 2
• Gene Aliases: CDG1, CDG1a, CDGS, PMI, PMI1, PMM 2
• Location: Chr.16:8797813-8849337 on Build GRCh38
• Assay Gene Location: Within Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PMM2	NM_000303.2	8	920	NP_000294.1
	XM_005255374.4	7	843	XP_005255431.1
	AB209659.1	4	4018	BAD92896.1
	AK291537.1	8	891
	AK296630.1	6	697
	AK299979.1	7	814
	AK300785.1	7	796
	AK304320.1	5	614
	AK311035.1	6	714
	BC008310.1	8	862	AAH08310.1
	U85773.1	8	898	AAC51368.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv27013	Chr.16:8845950 - 8894426 on Build GRCh38	Gain	CARHSP1 LOC101929989 PMM2 USP7
esv3637849	Chr.16:8837916 - 8849663 on Build GRCh38	Loss	PMM2
dgv341n27	Chr.16:8724825 - 8864606 on Build GRCh38	Gain	CARHSP1 ABAT PMM2 TMEM186
nsv1036523	Chr.16:8816897 - 8887095 on Build GRCh38	Gain	CARHSP1 LOC101929989 PMM2
nsv571428	Chr.16:8768414 - 8890412 on Build GRCh38	Gain	CARHSP1 LOC101929989 ABAT PMM2 TMEM186
nsv521109	Chr.16:8829358 - 8890412 on Build GRCh38	Loss	CARHSP1 LOC101929989 PMM2
nsv1043528	Chr.16:8839152 - 9022036 on Build GRCh38	Gain	CARHSP1 LOC101929989 PMM2 USP7
esv2763129	Chr.16:8786703 - 8898971 on Build GRCh38	Gain	CARHSP1 LOC101929989 PMM2 TMEM186 USP7
nsv833135	Chr.16:8846452 - 9027100 on Build GRCh38	Loss	CARHSP1 LOC101929989 PMM2 USP7
nsv571424	Chr.16:8698055 - 8916356 on Build GRCh38	Gain	CARHSP1 LOC101929989 ABAT PMM2 TMEM186 USP7

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

mutase

Gene Ontology Categories:

Process(es)

protein glycosylation
GDP-mannose biosynthetic process

Function(s)

phosphomannomutase activity
protein binding