Hs01304125_cn

• Gene Symbol: MUT
• Assay Reference Genome Location: Chr.6:49444641 on build GRCh38
• Cytoband: 6p12.3

Target Gene Details

• Entrez Gene ID: 4594
• Gene Name: methylmalonyl-CoA mutase
• Gene Aliases: MCM
• Location: Chr.6:49430360-49463328 on Build GRCh38
• Assay Gene Location: Overlaps Intron 9 - Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MUT	NM_000255.3			NP_000246.2
	XM_005249143.3			XP_005249200.1
	AB208845.1	3	3432	BAD92082.1
	AK292568.1
	AK312611.1
	BC016282.1			AAH16282.1
	BT007434.1			AAP36102.1
	BX647789.1
	KF030882.1
	KU178201.1
	KU178202.1
	M65131.1			AAA59569.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv5960n100	Chr.6:49322472 - 49684411 on Build GRCh38	Gain	GLYATL3 CENPQ MUT C6orf141 RHAG CRISP2

More Information

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

Panther Classification:

Molecular Function -

mutase

Gene Ontology Categories:

Process(es)

cobalamin metabolic process
post-embryonic development
short-chain fatty acid catabolic process
homocysteine metabolic process

Function(s)

methylmalonyl-CoA mutase activity
cobalamin binding
metal ion binding
modified amino acid binding