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          • Home
          • › Search Tool
          • › Search Results
          • › C__30142760_10
          See other EEF1E1 GT Assays ›
          SNP ID:
          rs9505358
          Gene
          EEF1E1 EEF1E1-BLOC1S5
          Gene Name
          eukaryotic translation elongation factor 1 epsilon 1
          EEF1E1-BLOC1S5 readthrough (NMD candidate)
          Set Membership:
          > HapMap
          Chromosome Location:
          Chr.6: 8101796 - 8101796 on Build GRCh38
          Polymorphism:
          G/T, Transversion substitution
          Context Sequence [VIC/FAM]:

          ATGTTTCCCGCATTCACTGTGGGTC[G/T]TAACACTTAAACTGATAATCCAAGG

          Assay ID C__30142760_10
          Size
          Availability Made To Order
          Catalog # 4351379
          Price
          Your Price
          Online offer:
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          • Genomic Map
          • Assay Details
          • More Information

          Genomic Map

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          Assay Details



          Species:

          Human

          dbSNP Submissions:

          NA

          Phenotype:

          MIM: 609206

          Literature Links:

          EEF1E1 PubMed Links

          Allele Nomenclature:

          Minor Allele Frequency:

          1000Genome Applied Biosystems® HapMap
          Global
          T (0.02)
          (0.98)
          Caucasian - Not Available CEPH (CEU) - Not Available
          EAS
          T (0.00)
          (1.00)
          African American - Not Available YRI (Yoruba)
          T (0.10)
          (0.90)
          SAS
          T (0.00)
          (1.00)
          Chinese - Not Available CHB (Han Chinese) - Not Available
          AFR
          T (0.07)
          (0.93)
          Japanese - Not Available JPT (Japanese) - Not Available
          EUR
          T (0.00)
          (1.00)
          AMR
          T (0.01)
          (0.99)
          EEF1E1 - eukaryotic translation elongation factor 1 epsilon 1
          Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
          NM_001135650.1 Intron NP_001129122.1
          NM_004280.4 Intron NP_004271.1
          EEF1E1-BLOC1S5 - EEF1E1-BLOC1S5 readthrough (NMD candidate)
          There are no transcripts associated with this gene.

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          More Information


          Set Membership:

          HapMap

          Panther Classification:

          Molecular Function -

          translation elongation factor

          Gene Ontology Categories:

          Function(s) Process(es)

          translational elongation
          tRNA aminoacylation for protein translation
          glutathione metabolic process
          negative regulation of cell proliferation
          positive regulation of apoptotic process
          positive regulation of DNA damage response, signal transduction by p53 class mediator
          positive regulation of cellular senescence
          translation elongation factor activity
          glutathione transferase activity
          protein binding

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