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          • Home
          • › Search Tool
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          • › C_171098834_10
          See other EGR1 GT Assays ›
          SNP ID:
          rs140129794
          Gene
          EGR1
          Gene Name
          early growth response 1
          Set Membership:
          -
          Chromosome Location:
          Chr.5: 138466060 - 138466060 on Build GRCh38
          Polymorphism:
          C/T, Transition substitution
          Context Sequence [VIC/FAM]:

          ACGGGCGAGCAGCCCTACGAGCACC[C/T]GACCGCAGGTAAGCAGTGGCCTACG

          Assay ID C_171098834_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: 128990

          Literature Links:

          EGR1 PubMed Links

          Allele Nomenclature:

          Minor Allele Frequency:

          1000Genome Applied Biosystems® HapMap
          Global - Not Available Caucasian - Not Available CEPH (CEU) - Not Available
          EAS - Not Available African American - Not Available YRI (Yoruba) - Not Available
          SAS - Not Available Chinese - Not Available CHB (Han Chinese) - Not Available
          AFR - Not Available Japanese - Not Available JPT (Japanese) - Not Available
          EUR - Not Available
          AMR - Not Available
          EGR1 - early growth response 1
          Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
          NM_001964.2 569 Missense Mutation CCG,CTG P,L 100 NP_001955.1

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          More Information


          Panther Classification:

          Molecular Function -

          C2H2 zinc finger transcription factor

          Gene Ontology Categories:

          Function(s) Process(es)

          negative regulation of transcription from RNA polymerase II promoter
          transcription from RNA polymerase II promoter
          response to glucose
          T cell differentiation
          BMP signaling pathway
          response to insulin
          regulation of protein sumoylation
          skeletal muscle cell differentiation
          regulation of apoptotic process
          positive regulation of transcription, DNA-templated
          positive regulation of transcription from RNA polymerase II promoter
          type I interferon signaling pathway
          regulation of transcription from RNA polymerase II promoter in response to hypoxia
          interleukin-1-mediated signaling pathway
          cellular response to gamma radiation
          cellular response to heparin
          cellular response to mycophenolic acid
          glomerular mesangial cell proliferation
          positive regulation of glomerular metanephric mesangial cell proliferation
          negative regulation of canonical Wnt signaling pathway
          transcription regulatory region sequence-specific DNA binding
          RNA polymerase II regulatory region sequence-specific DNA binding
          transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
          DNA binding
          transcription factor activity, sequence-specific DNA binding
          protein binding
          histone acetyltransferase binding
          sequence-specific DNA binding
          metal ion binding

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