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          • Home
          • › Search Tool
          • › Search Results
          • › Hs04066770_cn
          See other PDXK CNV Assays ›
          Gene Symbol
          PDXK
          Assay Reference Genome
          Location

          Chr.21:43748579 on build GRCh38
          Cytoband
          Assay ID Hs04066770_cn
          Size
          Availability Made To Order
          Catalog # 4400291
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          • Genomic Map
          • Assay Details
          • More Information

          Genomic Map

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          Assay Details

          Target Gene Details

          Entrez Gene ID:

          8566

          Gene Name:

          pyridoxal kinase

          Gene Aliases:

          C21orf124, C21orf97, HEL-S-1a, HMSN6C, PKH, PNK, PRED79

          Location:

          Chr.21:43719129-43762299 on Build GRCh38

          Assay Gene Location:

          Within Intron 13
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          PDXK NM_001331030.2 NP_001317959.1
          NM_003681.5 NP_003672.1
          XM_005261195.3 XP_005261252.2
          XM_005261196.4 XP_005261253.1
          XM_005261199.3 XP_005261256.1
          XM_011529761.2 XP_011528063.1
          XM_047441001.1 XP_047296957.1
          XM_047441002.1 XP_047296958.1
          XM_047441003.1 XP_047296959.1
          XM_047441004.1 XP_047296960.1
          XM_047441005.1 XP_047296961.1
          XM_047441006.1 XP_047296962.1
          AB621819.1 BAK64155.1
          AY303972.1 AAP73047.1
          BC000123.1 AAH00123.1
          BC005825.2 AAH05825.1
          BX382033.2
          BX382034.2
          EU794642.1 ACJ13696.1
          U89606.1 AAC51233.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2025-12-01, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          nsv509799 Chr.21:43724009 - 43852846 on Build GRCh38 Insertion PDXK RRP1 CSTB AATBC
          nsv587716 Chr.21:43740206 - 43756740 on Build GRCh38 Loss PDXK
          nsv4273762 Chr.21:43680575 - 43762549 on Build GRCh38 Duplication RRP1B PDXK
          dgv7874n54 Chr.21:43708309 - 43771258 on Build GRCh38 Gain PDXK
          nsv953642 Chr.21:43731220 - 43827719 on Build GRCh38 Deletion PDXK RRP1 CSTB AATBC
          nsv834107 Chr.21:43735444 - 43874665 on Build GRCh38 Loss PDXK AGPAT3 RRP1 CSTB AATBC
          nsv470904 Chr.21:43731164 - 43838166 on Build GRCh38 Loss PDXK RRP1 CSTB AATBC

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          More Information


          Set Membership:

          Intragenic Intronic Non-exonic DGV Variation

          Gene Ontology Categories:

          Function(s) Process(es)

          pyridoxal 5'-phosphate salvage
          pyridoxal metabolic process
          pyridoxamine metabolic process
          pyridoxal phosphate metabolic process
          nucleotide binding
          magnesium ion binding
          ATP binding
          zinc ion binding
          pyridoxal kinase activity
          kinase activity
          transferase activity
          phosphotransferase activity, alcohol group as acceptor
          pyridoxal phosphate binding
          potassium ion binding
          sodium ion binding
          lithium ion binding
          protein homodimerization activity
          metal ion binding

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