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See other KCNQ2 CNV Assays ›
Gene Symbol
KCNQ2
Assay Reference Genome
Location

Chr.20:63406584 on build GRCh38
Cytoband
20q13.33
Assay ID Hs00045359_cn
Size
Availability Made To Order
Catalog # 4400291
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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 Exon 19
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
KCNQ2 NM_004518.5 15 2809 NP_004509.2
NM_172106.2 16 2839 NP_742104.1
NM_172107.3 17 2893 NP_742105.1
NM_172108.4 16 2800 NP_742106.1
XM_011528810.1 17 2859 XP_011527112.1
XM_011528811.1 16 2829 XP_011527113.1
XM_017027841.1 17 2856 XP_016883330.1
XM_017027842.1 16 2793 XP_016883331.1
XM_017027843.1 17 2752 XP_016883332.1
XM_017027844.1 16 2748 XP_016883333.1
XM_017027845.1 7 2299 XP_016883334.1
AF033348.1 17 2806 AAB97315.1
AF074247.1 16 2800 AAC25921.1
AF110020.1 16 2632 AAD16988.1
Y15065.1 15 2637 CAA75348.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv953306 Chr.20:63151949 - 63571247 on Build GRCh38 Deletion MIR124-3 PPDPF FNDC11 LOC102723788 HELZ2 COL20A1 PTK6 BIRC7 YTHDF1 FLJ16779 LOC107985425 ARFGAP1 EEF1A2 NKAIN4 MIR3196 LOC100130587 MIR4326 LOC100130152 SRMS KCNQ2 CHRNA4
nsv586565 Chr.20:63392922 - 63409602 on Build GRCh38 Loss LOC100130152 KCNQ2
nsv9825 Chr.20:62775470 - 63601330 on Build GRCh38 Gain HAR1A BHLHE23 FNDC11 LINC00659 LINC01056 COL20A1 DIDO1 BIRC7 GID8 YTHDF1 ARFGAP1 EEF1A2 LOC107985428 MIR3196 LOC100130587 MIR4326 SRMS KCNQ2 CHRNA4 MIR124-3 PPDPF MRGBP LINC00029 SLC17A9 LOC102723788 OGFR HELZ2 PTK6 LOC63930 TCFL5 DPH3P1 FLJ16779 LOC107985425 COL9A3 NKAIN4 GMEB2 OGFR-AS1 LOC100130152 HAR1B
nsv470562 Chr.20:63362590 - 63460989 on Build GRCh38 Loss LOC102723788 LOC100130587 LOC100130152 KCNQ2 CHRNA4

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