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          • Home
          • › Search Tool
          • › Search Results
          • › C_172155444_10
          See other HFE GT Assays ›
          SNP ID:
          rs142325880
          Gene
          HFE HIST1H1T HIST1H4C
          Gene Name
          hemochromatosis
          histone cluster 1, H1t
          histone cluster 1, H4c
          Set Membership:
          -
          Chromosome Location:
          Chr.6: 26104241 - 26104241 on Build GRCh38
          Polymorphism:
          C/G, Transversion substitution
          Context Sequence [VIC/FAM]:

          CCCTAAAACGTCAGGGGCGCACTCT[C/G]TATGGCTTCGGCGGCTGAATCTAAG

          Assay ID C_172155444_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: 613609 MIM: 142712 MIM: 602827

          Literature Links:

          HFE PubMed Links

          Allele Nomenclature:

          Minor Allele Frequency:

          1000Genome Applied Biosystems® HapMap
          Global
          C (0.00)
          (1.00)
          Caucasian - Not Available CEPH (CEU) - Not Available
          EAS
          C (0.00)
          (1.00)
          African American - Not Available YRI (Yoruba) - Not Available
          SAS
          C (0.00)
          (1.00)
          Chinese - Not Available CHB (Han Chinese) - Not Available
          AFR
          C (0.00)
          (1.00)
          Japanese - Not Available JPT (Japanese) - Not Available
          EUR
          C (0.00)
          (1.00)
          AMR
          C (0.00)
          (1.00)
          HFE - hemochromatosis
          There are no transcripts associated with this gene.
          HIST1H1T - histone cluster 1, H1t
          There are no transcripts associated with this gene.
          HIST1H4C - histone cluster 1, H4c
          Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
          NM_003542.3 294 Silent Mutation CTC,CTG L,L 98 NP_003533.1

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          More Information


          Panther Classification:

          Molecular Function -

          histone

          Gene Ontology Categories:

          Function(s) Process(es)

          chromatin silencing at rDNA
          double-strand break repair via nonhomologous end joining
          nucleosome assembly
          DNA replication-dependent nucleosome assembly
          DNA replication-independent nucleosome assembly
          DNA-templated transcription, initiation
          telomere capping
          gene silencing by RNA
          telomere organization
          CENP-A containing nucleosome assembly
          cellular protein metabolic process
          negative regulation of megakaryocyte differentiation
          negative regulation of gene expression, epigenetic
          positive regulation of gene expression, epigenetic
          protein heterotetramerization
          beta-catenin-TCF complex assembly
          DNA binding
          protein binding
          protein domain specific binding
          histone binding
          poly(A) RNA binding
          protein heterodimerization activity

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