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          • Home
          • › Search Tool
          • › Search Results
          • › Hs01245499_cn
          See other ECEL1 CNV Assays ›
          Gene Symbol
          ECEL1
          Assay Reference Genome
          Location

          Chr.2:232481116 on build GRCh38
          Cytoband
          Assay ID Hs01245499_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:

          9427

          Gene Name:

          endothelin converting enzyme like 1

          Gene Aliases:

          DA5D, DINE, ECEX, XCE

          Location:

          Chr.2:232479827-232487834 on Build GRCh38

          Assay Gene Location:

          Overlaps Intron 14 - Intron 15
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          ECEL1 NM_001290787.2 NP_001277716.1
          NM_004826.4 NP_004817.2
          AB030579.1 BAC66225.1
          AB073895.1
          AY358923.1 AAQ89282.1
          BC050453.1 AAH50453.2
          DQ114476.1 AAZ22338.1
          Y16187.1 CAA76113.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2025-12-01, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          nsv527789 Chr.2:232436106 - 232533505 on Build GRCh38 Loss ECEL1 ALPI PRSS56 CHRND
          nsv522450 Chr.2:232276667 - 232522925 on Build GRCh38 Loss ECEL1 ALPP ALPI ALPG PRSS56 DIS3L2 ECEL1P2
          nsv584694 Chr.2:232463920 - 232508140 on Build GRCh38 Loss ECEL1
          nsv821918 Chr.2:232319063 - 232560965 on Build GRCh38 Gain ECEL1 ALPP MIR5001 ALPI ALPG CHRNG PRSS56 EIF4E2 CHRND DIS3L2 TIGD1 ECEL1P2
          nsv5987954 Chr.2:232415855 - 232485889 on Build GRCh38 Duplication ECEL1 ALPI
          nsv584695 Chr.2:232470431 - 232495797 on Build GRCh38 Loss ECEL1
          nsv953202 Chr.2:232474691 - 232546890 on Build GRCh38 Deletion ECEL1 CHRNG PRSS56 CHRND TIGD1
          nsv516082 Chr.2:232474838 - 232511074 on Build GRCh38 Loss ECEL1

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          More Information


          Set Membership:

          Intragenic Intronic Non-exonic DGV Variation

          Gene Ontology Categories:

          Function(s) Process(es)

          respiratory system process
          proteolysis
          neuropeptide signaling pathway
          protein processing
          metalloendopeptidase activity
          peptidase activity
          metallopeptidase activity
          hydrolase activity
          metal ion binding

          Back To Top

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