Name: [Hs04046702_cn] [KCNQ2]
Creator: Thermo Fisher Scientific
Keywords: [KCNQ2] Assay, [potassium voltage-gated channel subfamily Q member 2] Assay

Genomic Map

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Assay Details

Target Gene Details

Entrez Gene ID:	3785
Gene Name:	potassium voltage-gated channel subfamily Q member 2
Gene Aliases:	BFNC, EBN, EBN1, ENB1, HNSPC, KCNA11, KV7.2
Location:	Chr.20:63400208-63472677 on Build GRCh38
Assay Gene Location:	Within Intron 13

Gene Symbol	Transcript Accession	Protein ID
KCNQ2	NM_004518.5	NP_004509.2
	NM_172106.2	NP_742104.1
	NM_172107.3	NP_742105.1
	NM_172108.4	NP_742106.1
	XM_011528810.1	XP_011527112.1
	XM_011528811.1	XP_011527113.1
	XM_017027841.1	XP_016883330.1
	XM_017027842.1	XP_016883331.1
	XM_017027843.1	XP_016883332.1
	XM_017027844.1	XP_016883333.1
	XM_017027845.1	XP_016883334.1
	AF033348.1	AAB97315.1
	AF074247.1	AAC25921.1
	AF110020.1	AAD16988.1
	Y15065.1	CAA75348.1

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1126602	Chr.20:63415247 - 63415647 on Build GRCh38	Deletion	KCNQ2
nsv953306	Chr.20:63151949 - 63571247 on Build GRCh38	Deletion	LOC107985425 COL20A1 PTK6 MIR3196 MIR4326 KCNQ2 HELZ2 FLJ16779 LOC100130587 LOC102723788 LOC100130152 NKAIN4 EEF1A2 MIR124-3 YTHDF1 FNDC11 SRMS ARFGAP1 CHRNA4 BIRC7 PPDPF
esv3646317	Chr.20:63411810 - 63431038 on Build GRCh38	Gain	KCNQ2
esv3568097	Chr.20:63413305 - 63423602 on Build GRCh38	Loss	KCNQ2
nsv9825	Chr.20:62775470 - 63601330 on Build GRCh38	Gain	DIDO1 PTK6 MIR3196 MIR4326 KCNQ2 HELZ2 LINC00029 SLC17A9 LINC00659 OGFR LOC102723788 LINC01056 LOC100130152 MRGBP SRMS LOC63930 BIRC7 OGFR-AS1 COL9A3 LOC107985425 COL20A1 BHLHE23 TCFL5 FLJ16779 HAR1B LOC100130587 HAR1A NKAIN4 EEF1A2 MIR124-3 YTHDF1 GID8 LOC107985428 GMEB2 FNDC11 DPH3P1 ARFGAP1 CHRNA4 PPDPF
nsv470562	Chr.20:63362590 - 63460989 on Build GRCh38	Loss	LOC100130587 LOC102723788 LOC100130152 KCNQ2 CHRNA4