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          • Home
          • › Search Tool
          • › Search Results
          • › Hs06515073_cn
          See other FH CNV Assays ›
          Gene Symbol
          FH
          Assay Reference Genome
          Location

          Chr.1:241518644 on build GRCh38
          Cytoband
          Assay ID Hs06515073_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:

          2271

          Gene Name:

          fumarate hydratase

          Gene Aliases:

          FMRD, HLRCC, HsFH, LRCC, MCL, MCUL1

          Location:

          Chr.1:241497603-241519755 on Build GRCh38

          Assay Gene Location:

          Within Intron 1
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          FH NM_000143.4 NP_000134.2
          AK312415.1 BAG35325.1
          BC003108.1 AAH03108.1
          BC017444.1 AAH17444.1
          BT009839.1 AAP88841.1
          DA129148.1
          GQ891515.1 ADO22377.1
          KU178071.1 ALQ33529.1
          KU178072.1 ALQ33530.1
          KU178073.1 ALQ33531.1
          KU178074.1 ALQ33532.1
          KU178075.1 ALQ33533.1
          KU178076.1 ALQ33534.1
          U48857.1 AAD00071.1
          U59309.1 AAB66354.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2025-12-01, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          nsv6325321 Chr.1:241517001 - 241519500 on Build GRCh38 Duplication FH
          nsv6330175 Chr.1:241516101 - 241521300 on Build GRCh38 Duplication FH
          nsv549460 Chr.1:241331278 - 241669985 on Build GRCh38 Gain OPN3 CHML WDR64 KMO FH RGS7
          nsv1002214 Chr.1:241295639 - 241936488 on Build GRCh38 Gain OPN3 CHML WDR64 KMO FH EXO1 RGS7
          nsv1154958 Chr.1:241433681 - 241566754 on Build GRCh38 Duplication KMO FH

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          More Information


          Set Membership:

          Intragenic Intronic Non-exonic DGV Variation

          Gene Ontology Categories:

          Function(s) Process(es)

          urea cycle
          regulation of arginine metabolic process
          tricarboxylic acid cycle
          fumarate metabolic process
          malate metabolic process
          DNA repair
          arginine metabolic process
          cellular response to DNA damage stimulus
          homeostasis of number of cells within a tissue
          positive regulation of cold-induced thermogenesis
          positive regulation of double-strand break repair via nonhomologous end joining
          catalytic activity
          fumarate hydratase activity
          protein binding
          lyase activity
          histone binding

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