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

Chr.20:63407374 on build GRCh38
Cytoband
20q13.33
Assay ID Hs04054953_cn
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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:

 Overlaps Intron 18 - Exon 19
Gene Symbol Transcript Accession Exon Location Assay Transcript Location 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
nsv953306 Chr.20:63151949 - 63571247 on Build GRCh38 Deletion HELZ2 CHRNA4 BIRC7 COL20A1 KCNQ2 LOC100130587 ARFGAP1 YTHDF1 SRMS LOC100130152 EEF1A2 MIR4326 MIR124-3 PTK6 LOC102723788 FNDC11 MIR3196 FLJ16779 NKAIN4 LOC107985425 PPDPF
nsv586565 Chr.20:63392922 - 63409602 on Build GRCh38 Loss LOC100130152 KCNQ2
nsv9825 Chr.20:62775470 - 63601330 on Build GRCh38 Gain LOC107985428 HELZ2 COL9A3 LOC100130587 ARFGAP1 GID8 YTHDF1 BHLHE23 GMEB2 LOC100130152 OGFR PTK6 LOC102723788 LINC00029 FNDC11 OGFR-AS1 MIR3196 FLJ16779 HAR1A NKAIN4 CHRNA4 HAR1B LOC63930 DIDO1 BIRC7 COL20A1 KCNQ2 SLC17A9 LINC00659 SRMS TCFL5 MRGBP EEF1A2 MIR4326 MIR124-3 DPH3P1 LINC01056 LOC107985425 PPDPF
nsv470562 Chr.20:63362590 - 63460989 on Build GRCh38 Loss CHRNA4 LOC100130152 LOC102723788 KCNQ2 LOC100130587

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More Information


Additional Information:

For this assay, SNP(s) [rs111793741] 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 Non-exonic DGV Variation

Panther Classification:

Molecular Function -

voltage-gated ion channel

Gene Ontology Categories:

Function(s) Process(es)


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