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          • Home
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          • › Hs04402932_cn
          See other KCNQ1 CNV Assays ›
          Gene Symbol
          KCNQ1
          Assay Reference Genome
          Location

          Chr.11:2834735 on build GRCh38
          Cytoband
          11p15.4
          Assay ID Hs04402932_cn
          Size
          Availability Made To Order
          Catalog # 4400291
          Price
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          • Genomic Map
          • Assay Details
          • More Information

          Genomic Map

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          Assay Details

          Target Gene Details

          Entrez Gene ID:

          3784

          Gene Name:

          potassium voltage-gated channel subfamily Q member 1

          Gene Aliases:

          ATFB1, ATFB3, JLNS1, KCNA8, KCNA9, KVLQT1, Kv1.9, Kv7.1, LQT, LQT1, RWS, SQT2, WRS

          Location:

          Chr.11:2444991-2849110 on Build GRCh38

          Assay Gene Location:

          Within Intron 16
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          KCNQ1 NM_000218.2 NP_000209.2
          NM_181798.1 NP_861463.1
          AF000571.1 AAC51776.1
          AF051426.1 AAC05705.1
          AK129678.1
          AK290618.1
          BC017074.1 AAH17074.1
          BC113545.1
          U89364.1 AAC51781.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2016-05-15, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          esv2759795 Chr.11:2767814 - 2942382 on Build GRCh38 Gain SLC22A18AS KCNQ1DN PHLDA2 SLC22A18 KCNQ1-AS1 KCNQ1 CDKN1C
          nsv951292 Chr.11:2792271 - 2927870 on Build GRCh38 Deletion SLC22A18AS KCNQ1DN SLC22A18 KCNQ1-AS1 KCNQ1 CDKN1C
          nsv469930 Chr.11:2831299 - 2924715 on Build GRCh38 Loss SLC22A18AS KCNQ1DN SLC22A18 KCNQ1-AS1 KCNQ1 CDKN1C
          nsv1053066 Chr.11:2829552 - 2872696 on Build GRCh38 Gain KCNQ1DN KCNQ1-AS1 KCNQ1
          nsv8764 Chr.11:2831869 - 2843176 on Build GRCh38 Gain KCNQ1-AS1 KCNQ1

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          More Information


          Set Membership:

          Intragenic Intronic Non-exonic DGV Variation

          Panther Classification:

          Molecular Function -

          voltage-gated ion channel

          Gene Ontology Categories:

          Function(s) Process(es)

          positive regulation of defense response to virus by host
          regulation of gene expression by genetic imprinting
          sensory perception of sound
          regulation of heart contraction
          positive regulation of heart rate
          gene silencing
          cellular response to drug
          inner ear development
          intestinal absorption
          cardiac muscle contraction
          regulation of membrane repolarization
          regulation of ventricular cardiac muscle cell membrane repolarization
          regulation of atrial cardiac muscle cell membrane repolarization
          positive regulation of cardiac muscle contraction
          regulation of gastric acid secretion
          cardiac conduction
          renal absorption
          cellular response to cAMP
          potassium ion export
          potassium ion transmembrane transport
          cellular response to epinephrine stimulus
          cardiovascular system development
          ventricular cardiac muscle cell action potential
          membrane repolarization during action potential
          membrane repolarization during cardiac muscle cell action potential
          atrial cardiac muscle cell action potential
          regulation of heart rate by cardiac conduction
          potassium ion export across plasma membrane
          xenophagy
          membrane repolarization during ventricular cardiac muscle cell action potential
          positive regulation of potassium ion transmembrane transport
          voltage-gated potassium channel activity
          delayed rectifier potassium channel activity
          protein binding
          calmodulin binding
          phosphatidylinositol-4,5-bisphosphate binding
          protein phosphatase 1 binding
          outward rectifier potassium channel activity
          protein kinase A catalytic subunit binding
          protein kinase A regulatory subunit binding
          ion channel binding
          voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization
          voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization
          scaffold protein binding
          voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization

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