Name: [Hs01354559_cn] [MBL2]
Creator: Thermo Fisher Scientific
Keywords: [MBL2] Assay, [mannose binding lectin 2] Assay

Genomic Map

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Assay Details

Entrez Gene ID:	4153
Gene Name:	mannose binding lectin 2
Gene Aliases:	COLEC1, HSMBPC, MBL, MBL2D, MBP, MBP-C, MBP1, MBPD
Location:	Chr.10:52764977-52772845 on Build GRCh38
Assay Gene Location:	Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MBL2	NM_000242.2	4	644	NP_000233.1
	XM_006717861.3	5	712	XP_006717924.1
	XM_011539816.2	5	696	XP_011538118.1
	AF360991.1	4	595	AAK52907.1
	AY826184.1	4	579	AAV80468.1
	BC069338.1	4	629	AAH69338.1
	BC096179.3	4	610	AAH96179.1
	BC096180.3	4	610
	BC096181.3	4	610
	BC096182.3	4	610
	X15422.1	4	644	CAA33462.1

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1041917	Chr.10:52741572 - 55682853 on Build GRCh38	Loss	MBL2 MIR548F1 MTRNR2L5 LOC105378311 PCDH15
nsv437673	Chr.10:52765749 - 52776791 on Build GRCh38	Loss	MBL2
nsv515970	Chr.10:52764898 - 52771475 on Build GRCh38	Gain+Loss	MBL2
esv2666698	Chr.10:52766742 - 52769474 on Build GRCh38	Deletion	MBL2
esv2761595	Chr.10:52759208 - 52771925 on Build GRCh38	Loss	MBL2
dgv854n100	Chr.10:52757467 - 52785830 on Build GRCh38	Gain	MBL2
esv3578899	Chr.10:52761345 - 52773600 on Build GRCh38	Loss	MBL2
nsv518123	Chr.10:52762874 - 52769497 on Build GRCh38	Loss	MBL2
esv24436	Chr.10:52766865 - 52769490 on Build GRCh38	Loss	MBL2
nsv831876	Chr.10:52732751 - 52889632 on Build GRCh38	Gain	MBL2
nsv1051777	Chr.10:52761330 - 52802372 on Build GRCh38	Gain	MBL2