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            • Home
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            • › C__26970570_10
            See other KCNH1 GT Assays ›
            SNP ID:
            rs35589363
            Gene
            KCNH1
            Gene Name
            potassium voltage-gated channel subfamily H member 1
            Set Membership:
            -
            Chromosome Location:
            Chr.1: 210773093 - 210773093 on Build GRCh38
            Polymorphism:
            A/C, Transversion substitution
            Context Sequence [VIC/FAM]:

            ATCAGCAACACTGAAAGCTGATTAT[A/C]ATCAACTTGCTTTCATAGAAAGAAG

            Assay ID C__26970570_10
            Size
            Availability Made To Order
            Catalog # 4351379
            Price (USD) 442.00
            Your Price
            Online offer (USD):407.65
            407.65
            Check your price ›
            • Genomic Map
            • Assay Details
            • More Information

            Genomic Map

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            Assay Details



            Species:

            Human

            dbSNP Submissions:

            23 submissions

            Phenotype:

            MIM: 603305

            Literature Links:

            KCNH1 PubMed Links

            Allele Nomenclature:

            Minor Allele Frequency:

            1000Genome Applied Biosystems® HapMap
            Global
            C (0.07)
            (0.93)
            Caucasian - Not Available CEPH (CEU) - Not Available
            EAS
            C (0.05)
            (0.95)
            African American - Not Available YRI (Yoruba) - Not Available
            SAS
            C (0.09)
            (0.91)
            Chinese - Not Available CHB (Han Chinese) - Not Available
            AFR
            C (0.01)
            (0.99)
            Japanese - Not Available JPT (Japanese) - Not Available
            EUR
            C (0.09)
            (0.91)
            AMR
            C (0.16)
            (0.84)
            KCNH1 - potassium voltage-gated channel subfamily H member 1
            Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
            NM_002238.3 Intron NP_002229.1
            NM_172362.2 Intron NP_758872.1
            XM_017001246.1 Intron XP_016856735.1

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            More Information


            Panther Classification:

            Molecular Function -

            ion channel

            Gene Ontology Categories:

            Function(s) Process(es)

            phosphorelay signal transduction system
            startle response
            potassium ion transport
            myoblast fusion
            signal transduction by protein phosphorylation
            regulation of ion transmembrane transport
            regulation of cell proliferation
            regulation of membrane potential
            cellular response to calcium ion
            potassium ion transmembrane transport
            phosphorelay sensor kinase activity
            delayed rectifier potassium channel activity
            protein binding
            calmodulin binding
            protein kinase binding
            cyclic nucleotide binding
            identical protein binding
            ion channel binding
            protein heterodimerization activity
            14-3-3 protein binding

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