Hs01104384_cn

• Gene Symbol: MCEE
• Assay Reference Genome Location: Chr.2:71110036 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 Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MCEE	NM_032601.3	3	510	NP_115990.3
	XM_005264613.2	3	372	XP_005264670.1
	AB209469.1	1	5557	BAD92706.1
	AF364547.1	3	483	AAK52052.1
	AI033764.1	1	366
	BC020825.1	3	475	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	MPHOSPH10 MCEE
esv2662403	Chr.2:71079295 - 71179547 on Build GRCh38	Deletion	MPHOSPH10 MCEE
nsv517762	Chr.2:71100222 - 71124357 on Build GRCh38	Gain+Loss	MCEE
nsv2771	Chr.2:71108462 - 71145252 on Build GRCh38	Deletion	MPHOSPH10 MCEE
esv2720185	Chr.2:71079275 - 71185049 on Build GRCh38	Deletion	MPHOSPH10 MCEE PAIP2B
nsv438353	Chr.2:71105173 - 71115461 on Build GRCh38	Loss	MCEE
nsv834256	Chr.2:71029484 - 71202682 on Build GRCh38	Gain	MPHOSPH10 NAGK OR7E91P MCEE PAIP2B OR7E62P

More Information

Additional Information:

For this assay, SNP(s) [rs115175255] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

epimerase/racemase, isomerase, metabolite interconversion enzyme

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