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          • › Hs03751360_cn
          See other PFKP CNV Assays ›
          Gene Symbol
          PFKP
          Assay Reference Genome
          Location

          Chr.10:3072935 on build GRCh38
          Cytoband
          10p15.2
          Assay ID Hs03751360_cn
          Size
          Availability Made To Order
          Catalog # 4400291
          Price
          Your 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:

          5214

          Gene Name:

          phosphofructokinase, platelet

          Gene Aliases:

          ATP-PFK, PFK-C, PFK-P, PFKF

          Location:

          Chr.10:3067475-3136805 on Build GRCh38

          Assay Gene Location:

          Within Intron 4
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          PFKP NM_001242339.1 NP_001229268.1
          NM_001323067.1 NP_001309996.1
          NM_001323068.1 NP_001309997.1
          NM_001323069.1 NP_001309998.1
          NM_001323071.1 NP_001310000.1
          NM_001323072.1 NP_001310001.1
          NM_002627.4 NP_002618.1
          XM_005252465.4 XP_005252522.1
          XM_005252466.4 XP_005252523.1
          XM_005252467.2 XP_005252524.1
          XM_006717449.1 XP_006717512.1
          AK092597.1
          AK291841.1
          AK308003.1
          BC002536.1 AAH02536.1
          BC029138.1 AAH29138.1
          D25328.1 BAA04998.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2016-05-15, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          esv2731128 Chr.10:3072476 - 3073770 on Build GRCh38 Deletion PFKP
          nsv549814 Chr.10:3055020 - 3170233 on Build GRCh38 Loss LOC101927824 PITRM1-AS1 PITRM1 SNORD142 PFKP
          dgv932n54 Chr.10:2382612 - 3253481 on Build GRCh38 Gain LOC101927824 LOC105376353 LOC107983989 LOC105376351 PITRM1-AS1 PITRM1 SNORD142 PFKP
          esv2730995 Chr.10:2770220 - 3706473 on Build GRCh38 Deletion LOC101927824 LOC105376353 LOC105376501 LOC105376360 PITRM1-AS1 PITRM1 SNORD142 PFKP
          nsv428229 Chr.10:2618610 - 3156581 on Build GRCh38 Gain LOC101927824 PITRM1-AS1 PITRM1 SNORD142 PFKP
          esv2674301 Chr.10:3072480 - 3073756 on Build GRCh38 Deletion PFKP
          esv2760124 Chr.10:2641047 - 3094525 on Build GRCh38 Gain LOC101927824 PFKP
          nsv517630 Chr.10:2632486 - 3097509 on Build GRCh38 Gain+Loss LOC101927824 PFKP
          nsv470913 Chr.10:3052993 - 3125271 on Build GRCh38 Loss LOC101927824 PFKP
          nsv549810 Chr.10:3035272 - 3691194 on Build GRCh38 Gain LOC101927824 LOC105376353 LOC105376501 LOC105376360 PITRM1-AS1 PITRM1 SNORD142 PFKP
          esv34832 Chr.10:2638872 - 3091456 on Build GRCh38 Gain LOC101927824 PFKP
          dgv933n54 Chr.10:2644284 - 3091456 on Build GRCh38 Gain LOC101927824 PFKP
          nsv470912 Chr.10:2650464 - 3091456 on Build GRCh38 Gain LOC101927824 PFKP
          esv3622161 Chr.10:3072358 - 3073773 on Build GRCh38 Loss PFKP
          esv26266 Chr.10:2646665 - 3092022 on Build GRCh38 Gain+Loss LOC101927824 PFKP
          dgv660n100 Chr.10:2641472 - 3092489 on Build GRCh38 Gain LOC101927824 PFKP
          dgv935n54 Chr.10:3044294 - 3125271 on Build GRCh38 Loss LOC101927824 PFKP
          esv3622141 Chr.10:2646620 - 3092104 on Build GRCh38 Gain LOC101927824 PFKP
          nsv825215 Chr.10:3058658 - 3099236 on Build GRCh38 Gain LOC101927824 PFKP

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          More Information


          Additional Information:

          Set Membership:

          Intragenic Intronic Non-exonic DGV Variation Validated

          Panther Classification:

          Molecular Function -

          carbohydrate kinase kinase transferase metabolite interconversion enzyme

          Gene Ontology Categories:

          Function(s) Process(es)

          fructose 6-phosphate metabolic process
          canonical glycolysis
          cell-cell adhesion
          mitophagy in response to mitochondrial depolarization
          6-phosphofructokinase activity
          ATP binding
          protein complex binding
          metal ion binding
          cadherin binding involved in cell-cell adhesion

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