Name: [Hs01162214_cn] [MBD4]
Creator: Thermo Fisher Scientific
Keywords: [MBD4] Assay, [methyl-CpG binding domain 4, DNA glycosylase] Assay

Genomic Map

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Assay Details

Target Gene Details

Entrez Gene ID:	8930
Gene Name:	methyl-CpG binding domain 4, DNA glycosylase
Gene Aliases:	MED1
Location:	Chr.3:129430944-129440179 on Build GRCh38
Assay Gene Location:	Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MBD4	NM_001276270.1	6	1807	NP_001263199.1
	NM_001276271.1	6	1825	NP_001263200.1
	NM_001276272.1	6	1825	NP_001263201.1
	NM_001276273.1	5	871	NP_001263202.1
	NM_003925.2	6	1825	NP_003916.1
	XM_011513268.2	5	619	XP_011511570.1
	AF072250.1	6	1655	AAC68879.1
	AF114784.1	6	1620	AAD22195.1
	AF532602.1	6	1653	AAP97338.1
	AK303013.1	6	1681
	AK312878.1	6	1563
	AM180876.1	5	525	CAJ55826.1
	BC011752.2	6	1504	AAH11752.1
	CD678412.1	2	84
	CR450305.1	6	1461	CAG29301.1

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv2725901	Chr.3:129380821 - 129487939 on Build GRCh38	Deletion	EFCAB12 SNORA7B RPL32P3 IFT122 MBD4
esv3597741	Chr.3:129383049 - 129486193 on Build GRCh38	Loss	EFCAB12 SNORA7B RPL32P3 IFT122 MBD4
nsv591668	Chr.3:129403449 - 129490335 on Build GRCh38	Gain	EFCAB12 IFT122 MBD4