Hs07549993_cn

• Gene Symbol: PMM2
• Assay Reference Genome Location: Chr.16:8845784 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 Intron 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PMM2	NM_000303.2			NP_000294.1
	XM_005255374.4			XP_005255431.1
	AB209659.1			BAD92896.1
	AK291537.1
	AK296630.1
	AK299979.1
	AK300785.1
	AK304320.1
	AK311035.1
	AK312532.1
	BC008310.1			AAH08310.1
	KU178265.1
	KU178266.1
	U85773.1			AAC51368.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3637849	Chr.16:8837916 - 8849663 on Build GRCh38	Loss	PMM2
dgv341n27	Chr.16:8724825 - 8864606 on Build GRCh38	Gain	PMM2 CARHSP1 TMEM186 ABAT
nsv1036523	Chr.16:8816897 - 8887095 on Build GRCh38	Gain	PMM2 CARHSP1 LOC101929989
nsv571428	Chr.16:8768414 - 8890412 on Build GRCh38	Gain	PMM2 CARHSP1 TMEM186 LOC101929989 ABAT
nsv521109	Chr.16:8829358 - 8890412 on Build GRCh38	Loss	PMM2 CARHSP1 LOC101929989
nsv1043528	Chr.16:8839152 - 9022036 on Build GRCh38	Gain	PMM2 CARHSP1 LOC101929989 USP7
esv2763129	Chr.16:8786703 - 8898971 on Build GRCh38	Gain	PMM2 CARHSP1 TMEM186 LOC101929989 USP7
esv24810	Chr.16:8832940 - 8845843 on Build GRCh38	Loss	PMM2
nsv571424	Chr.16:8698055 - 8916356 on Build GRCh38	Gain	PMM2 CARHSP1 TMEM186 LOC101929989 ABAT USP7

More Information

• Set Membership: Intragenic, Intronic, Non-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