Hs02291108_cn

• Gene Symbol: PMM2
• Assay Reference Genome Location: Chr.16:8848784 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	1770	NP_000294.1
	XM_005255374.4	7	1693	XP_005255431.1
	AB209659.1	4	4868	BAD92896.1
	AK311035.1
	BC008310.1	8	1712	AAH08310.1
	BM973590.1	1	571
	U85773.1	8	1748	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 PMM2 USP7 LOC101929989
esv3637849	Chr.16:8837916 - 8849663 on Build GRCh38	Loss	PMM2
dgv341n27	Chr.16:8724825 - 8864606 on Build GRCh38	Gain	TMEM186 CARHSP1 ABAT PMM2
nsv1036523	Chr.16:8816897 - 8887095 on Build GRCh38	Gain	CARHSP1 PMM2 LOC101929989
nsv571428	Chr.16:8768414 - 8890412 on Build GRCh38	Gain	TMEM186 CARHSP1 ABAT PMM2 LOC101929989
nsv521109	Chr.16:8829358 - 8890412 on Build GRCh38	Loss	CARHSP1 PMM2 LOC101929989
nsv1043528	Chr.16:8839152 - 9022036 on Build GRCh38	Gain	CARHSP1 PMM2 USP7 LOC101929989
esv2763129	Chr.16:8786703 - 8898971 on Build GRCh38	Gain	TMEM186 CARHSP1 PMM2 USP7 LOC101929989
nsv833135	Chr.16:8846452 - 9027100 on Build GRCh38	Loss	CARHSP1 PMM2 USP7 LOC101929989
nsv571424	Chr.16:8698055 - 8916356 on Build GRCh38	Gain	TMEM186 CARHSP1 ABAT PMM2 USP7 LOC101929989

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