Hs03448120_cn

• Gene Symbol: MCEE
• Assay Reference Genome Location: Chr.2:71120396 on build GRCh38
• Cytoband: 2p13.3

Target Gene Details

• Entrez Gene ID: 84693
• Gene Name: methylmalonyl-CoA epimerase
• Gene Aliases: GLOD2
• Location: Chr.2:71109676-71130288 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MCEE	NM_032601.3			NP_115990.3
	XM_005264613.2			XP_005264670.1
	AF364547.1			AAK52052.1
	AI033764.1
	BC020825.1			AAH20825.1
	BM271757.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1009014	Chr.2:71096874 - 71181739 on Build GRCh38	Gain	MCEE MPHOSPH10
esv2759059	Chr.2:71115012 - 71146290 on Build GRCh38	Loss	MCEE MPHOSPH10
esv22790	Chr.2:71115076 - 71120682 on Build GRCh38	Loss	MCEE
nsv10002	Chr.2:71114936 - 71121584 on Build GRCh38	Loss	MCEE
esv3591223	Chr.2:71115410 - 71120756 on Build GRCh38	Loss	MCEE
nsv436287	Chr.2:71115258 - 71120663 on Build GRCh38	Deletion	MCEE
esv2760572	Chr.2:71119433 - 71120629 on Build GRCh38	Loss	MCEE
dgv6918n54	Chr.2:71115426 - 71120629 on Build GRCh38	Loss	MCEE
esv2678453	Chr.2:71115408 - 71120760 on Build GRCh38	Deletion	MCEE
esv2662403	Chr.2:71079295 - 71179547 on Build GRCh38	Deletion	MCEE MPHOSPH10
nsv517762	Chr.2:71100222 - 71124357 on Build GRCh38	Gain+Loss	MCEE
nsv2771	Chr.2:71108462 - 71145252 on Build GRCh38	Deletion	MCEE MPHOSPH10
nsv514075	Chr.2:71116930 - 71120706 on Build GRCh38	Loss	MCEE
esv2720185	Chr.2:71079275 - 71185049 on Build GRCh38	Deletion	MCEE PAIP2B MPHOSPH10
nsv508148	Chr.2:71120178 - 71201982 on Build GRCh38	Deletion	MCEE PAIP2B MPHOSPH10
nsv834256	Chr.2:71029484 - 71202682 on Build GRCh38	Gain	MCEE PAIP2B OR7E91P OR7E62P MPHOSPH10 NAGK

More Information

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

Panther Classification:

Molecular Function -

epimerase/racemase

Gene Ontology Categories:

Process(es)

short-chain fatty acid catabolic process
L-methylmalonyl-CoA metabolic process

Function(s)

methylmalonyl-CoA epimerase activity
protein binding
metal ion binding