Hs00898792_cn

• Gene Symbol: PMM2
• Assay Reference Genome Location: Chr.16:8797845 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 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PMM2	NM_000303.2	1	33	NP_000294.1
	XM_005255374.4	1	33	XP_005255431.1
	AK291537.1
	AK296123.1
	AK296630.1
	AK299979.1
	AK300785.1
	AK304320.1
	AK311035.1
	AK312532.1
	BC008310.1			AAH08310.1
	DC366756.1	1	40
	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
nsv1047172	Chr.16:8528343 - 8810411 on Build GRCh38	Gain	ABAT PMM2 TMEM186 METTL22 TMEM114
esv3637845	Chr.16:8773680 - 8813326 on Build GRCh38	Gain	ABAT PMM2 TMEM186
esv3637841	Chr.16:8691330 - 8808835 on Build GRCh38	Gain	ABAT PMM2 TMEM186
nsv571427	Chr.16:8746097 - 8808554 on Build GRCh38	Gain	ABAT PMM2 TMEM186
dgv341n27	Chr.16:8724825 - 8864606 on Build GRCh38	Gain	ABAT PMM2 TMEM186 CARHSP1
nsv1036281	Chr.16:8773500 - 8821048 on Build GRCh38	Gain	ABAT PMM2 TMEM186
nsv571428	Chr.16:8768414 - 8890412 on Build GRCh38	Gain	ABAT PMM2 TMEM186 CARHSP1 LOC101929989
esv2763129	Chr.16:8786703 - 8898971 on Build GRCh38	Gain	USP7 PMM2 TMEM186 CARHSP1 LOC101929989
nsv571424	Chr.16:8698055 - 8916356 on Build GRCh38	Gain	ABAT USP7 PMM2 TMEM186 CARHSP1 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