Hs02687540_cn

• Gene Symbol: MB21D1
• Assay Reference Genome Location: Chr.6:73428760 on build GRCh38
• Cytoband: 6q13

Target Gene Details

• Entrez Gene ID: 115004
• Gene Name: Mab-21 domain containing 1
• Gene Aliases: C6orf150, cGAS, h-cGAS
• Location: Chr.6:73423711-73452330 on Build GRCh38
• Assay Gene Location: Within Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MB21D1	NM_138441.2	4	1305	NP_612450.2
	XM_017010232.1	4	1315	XP_016865721.1
	AK097148.1	4	1261	BAC04965.1
	BC012928.1	4	1244	AAH12928.1
	BC108714.1	4	1264	AAI08715.1
	BC113606.1	4	1241
	BC113608.1	4	1241
	BC143694.1	4	1241
	KC294566.1	4	1166

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv830693	Chr.6:73339619 - 73506357 on Build GRCh38	Loss	MB21D1 OOEP-AS1 KHDC3L DDX43 MTO1 OOEP DPPA5

More Information

Additional Information:

For this assay, SNP(s) [rs73754628] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

activation of innate immune response
positive regulation of defense response to virus by host
cyclic nucleotide biosynthetic process
positive regulation of type I interferon production
innate immune response
defense response to virus
cellular response to exogenous dsRNA

Function(s)

DNA binding
ATP binding
GTP binding
metal ion binding
cyclic-GMP-AMP synthase activity