Hs02971507_cn

• Gene Symbol: MMACHC
• Assay Reference Genome Location: Chr.1:45508985 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 Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MMACHC	NM_015506.2	4	768	NP_056321.2
	XM_005270724.4	3	527	XP_005270781.1
	XM_011541204.2	4	677	XP_011539506.1
	AK098537.1	4	768
	AL080062.1	4	639	CAB45693.2
	BM980565.1	1	328
	BU839693.1	4	623

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	GPBP1L1 RPS15AP10 AKR1A1 TMEM69 IPP PRDX1 NASP TESK2 CCDC17 MMACHC MAST2 CCDC163P PIK3R3
nsv829726	Chr.1:45431909 - 45637514 on Build GRCh38	Loss	GPBP1L1 NASP TESK2 AKR1A1 CCDC17 MMACHC CCDC163P PRDX1

More Information

• Set Membership: Intragenic, 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