Hs05732861_cn

• Gene Symbol: MMACHC
• Assay Reference Genome Location: Chr.1:45503882 on build GRCh38
• Cytoband: 1p34.1

Target Gene Details

• Entrez Gene ID: 25974
• Gene Name: methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
• Gene Aliases: cblC
• Location: Chr.1:45500184-45511266 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MMACHC	NM_015506.2			NP_056321.2
	XM_005270724.4			XP_005270781.1
	XM_011541204.2			XP_011539506.1
	AK098537.1
	AL080062.1			CAB45693.2
	BU839693.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3893512	Chr.1:45476180 - 46068871 on Build GRCh38	Gain	AKR1A1 PRDX1 IPP TESK2 RPS15AP10 MMACHC TMEM69 PIK3R3 GPBP1L1 CCDC163P CCDC17 MAST2 NASP
nsv829726	Chr.1:45431909 - 45637514 on Build GRCh38	Loss	AKR1A1 PRDX1 TESK2 GPBP1L1 CCDC163P CCDC17 MMACHC NASP

More Information

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

Gene Ontology Categories:

Process(es)

cobalamin metabolic process
cobalamin biosynthetic process
oxidation-reduction process

Function(s)

protein binding
oxidoreductase activity
cobalamin binding
cyanocobalamin reductase (cyanide-eliminating) activity