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          • Home
          • › Search Tool
          • › Search Results
          • › Hs02315832_cn
          See other PNKD CNV Assays ›
          Gene Symbol
          PNKD
          Assay Reference Genome
          Location

          Chr.2:218279309 on build GRCh38
          Cytoband
          2q35
          Assay ID Hs02315832_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:

          25953

          Gene Name:

          paroxysmal nonkinesigenic dyskinesia

          Gene Aliases:

          BRP17, DYT8, FKSG19, FPD1, KIPP1184, MR-1, MR1, PDC, PKND1, TAHCCP2

          Location:

          Chr.2:218270392-218346793 on Build GRCh38

          Assay Gene Location:

          Within Intron 3
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          PNKD NM_015488.4 NP_056303.3
          XM_017003771.1 XP_016859260.1
          AB033010.1 BAA86498.1
          AK289867.1
          BC036457.2 AAH36457.1

          Target Gene Details

          Entrez Gene ID:

          64114

          Gene Name:

          transmembrane BAX inhibitor motif containing 1

          Gene Aliases:

          LFG3, MST100, MSTP100, PP1201, RECS1

          Location:

          Chr.2:218274192-218292577 on Build GRCh38

          Assay Gene Location:

          Overlaps Intron 8 - Intron 9
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          TMBIM1 NM_001321427.1 NP_001308356.1
          NM_001321428.1 NP_001308357.1
          NM_001321429.1 NP_001308358.1
          NM_001321430.1 NP_001308359.1
          NM_001321432.1 NP_001308361.1
          NM_001321433.1 NP_001308362.1
          NM_001321435.1 NP_001308364.1
          NM_001321436.1 NP_001308365.1
          NM_001321438.1 NP_001308367.1
          NM_022152.5 NP_071435.2
          NR_135643.1
          XM_011511627.1 XP_011509929.1
          AB257295.1
          AF193045.1 AAG22473.1
          AK027755.1 BAB55346.1
          AK090618.1
          AK093911.1
          AK130380.1
          AK130713.1
          AK298123.1
          AK298500.1
          AK300597.1
          BC007980.2 AAH07980.1
          BC013428.1 AAH13428.1
          BC026348.1 AAH26348.1
          BC026693.2 AAH26693.1
          BX471120.1
          CF994144.1

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          More Information


          Set Membership:

          Intragenic Intronic Non-exonic non-DGV Variation

          Gene Ontology Categories:

          Function(s) Process(es)

          methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione
          regulation of synaptic transmission, dopaminergic
          regulation of dopamine metabolic process
          negative regulation of neurotransmitter secretion
          neuromuscular process controlling posture
          negative regulation of catalytic activity
          negative regulation of establishment of protein localization to plasma membrane
          negative regulation of extrinsic apoptotic signaling pathway via death domain receptors
          negative regulation of Fas signaling pathway
          positive regulation of blood vessel remodeling
          hydroxyacylglutathione hydrolase activity
          protein binding
          metal ion binding
          death receptor binding

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