Hs07014037_cn

• Gene Symbol: MMAB
• Assay Reference Genome Location: Chr.12:109573043 on build GRCh38
• Cytoband: 12q24.11

Target Gene Details

• Entrez Gene ID: 326625
• Gene Name: methylmalonic aciduria (cobalamin deficiency) cblB type
• Gene Aliases: ATR, CFAP23, cblB, cob
• Location: Chr.12:109553715-109573553 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MMAB	NM_052845.3			NP_443077.1
	NR_038118.1
	AK295211.1
	AK312598.1
	BC005054.1
	BC011831.2			AAH11831.1
	DA718661.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv560118	Chr.12:109510100 - 109607113 on Build GRCh38	Loss	UBE3B MVK MMAB
esv3630719	Chr.12:109485009 - 109700854 on Build GRCh38	Gain	UBE3B MVK MMAB

More Information

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

Panther Classification:

Molecular Function -

dehydrogenase, oxidoreductase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

cobalamin metabolic process
cobalamin biosynthetic process

Function(s)

ATP binding
cob(I)yrinic acid a,c-diamide adenosyltransferase activity