Product Details

Assay Reference Genome Location: Chr.4:145621050 on build GRCh38
Cytoband: 4q31.21
Species: Homo sapiens
Variation Type: Copy Number

Additional Information

Target Gene Details

Entrez Gene ID: 166785
Gene Symbol: MMAA
Gene Name: methylmalonic aciduria (cobalamin deficiency) cblA type
Gene Aliases: cblA
Location: Chr.4:145619388-145660035 on build GRCh38
Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
MMAA	NM_172250.2			NP_758454.1
	XM_011531685.2			XP_011529987.1
	AK126662.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv830105	Chr4:145576238 - 145749385 on Build GRCh38	Loss	LOC285422 MMAA C4orf51

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