Hs06780051_cn

• Gene Symbol: PGM3
• Assay Reference Genome Location: Chr.6:83193702 on build GRCh38
• Cytoband: 6q14.1

Target Gene Details

• Entrez Gene ID: 5238
• Gene Name: phosphoglucomutase 3
• Gene Aliases: AGM1, IMD23, PAGM, PGM 3
• Location: Chr.6:83150728-83193936 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PGM3	NM_001199917.1			NP_001186846.1
	XM_017010936.1			XP_016866425.1
	AK301867.1
	DB033430.1

Target Gene Details

• Entrez Gene ID: 112611
• Gene Name: RWD domain containing 2A
• Gene Aliases: RWDD2, dJ747H23.2
• Location: Chr.6:83193313-83198935 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RWDD2A	NM_001322335.1			NP_001309264.1
	NM_001322336.1			NP_001309265.1
	NM_001322337.1			NP_001309266.1
	NM_001322339.1			NP_001309268.1
	NM_033411.4			NP_219479.2
	XM_017010222.1			XP_016865711.1
	XM_017010223.1			XP_016865712.1
	AK295724.1
	AK302978.1
	AK309249.1
	AK313083.1
	BG676907.1
	CD108545.1
	DC377982.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1026095	Chr.6:83040907 - 83209453 on Build GRCh38	Gain	RWDD2A UBE3D PGM3 DOPEY1

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

mutase, ubiquitin-protein ligase

Gene Ontology Categories:

Process(es)

glucosamine metabolic process
UDP-N-acetylglucosamine biosynthetic process
protein N-linked glycosylation
protein O-linked glycosylation
spermatogenesis
glucose 1-phosphate metabolic process
hemopoiesis

Function(s)

magnesium ion binding
phosphoacetylglucosamine mutase activity
phosphoglucomutase activity