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          • › C___8780895_20
          See other C9ORF172 GT Assays ›
          SNP ID:
          rs1045907
          Gene
          C9orf172 MAMDC4 PHPT1 RABL6
          Gene Name
          chromosome 9 open reading frame 172
          MAM domain containing 4
          phosphohistidine phosphatase 1
          RAB, member RAS oncogene family-like 6
          Set Membership:
          > HapMap
          Chromosome Location:
          Chr.9: 136850970 - 136850970 on Build GRCh38
          Polymorphism:
          A/C, Transversion substitution
          Context Sequence [VIC/FAM]:

          GGCAGCCTCTGGTGACGTGCTGTCC[A/C]CCAGGCCTTGGAGACAGGCTAGCCT

          Assay ID C___8780895_20
          Size
          Availability Made To Order
          Catalog # 4351379
          Price
          Your Price
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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: 610167 MIM: 610615

          Literature Links:

          C9orf172 PubMed Links

          Allele Nomenclature:

          Minor Allele Frequency:

          1000Genome Applied Biosystems® HapMap
          Global - Not Available Caucasian - Not Available CEPH (CEU)
          C (0.01)
          (0.99)
          EAS - Not Available African American - Not Available YRI (Yoruba)
          C (0.01)
          (0.99)
          SAS - Not Available Chinese - Not Available CHB (Han Chinese) - Not Available
          AFR - Not Available Japanese - Not Available JPT (Japanese)
          C (0.01)
          (0.99)
          EUR - Not Available
          AMR - Not Available
          C9orf172 - chromosome 9 open reading frame 172
          There are no transcripts associated with this gene.
          MAMDC4 - MAM domain containing 4
          There are no transcripts associated with this gene.
          PHPT1 - phosphohistidine phosphatase 1
          Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
          NM_001135861.2 1171 UTR 3 NP_001129333.1
          NM_001287342.1 1171 UTR 3 NP_001274271.1
          NM_001287343.1 1171 UTR 3 NP_001274272.1
          NM_014172.5 1171 UTR 3 NP_054891.2
          RABL6 - RAB, member RAS oncogene family-like 6
          There are no transcripts associated with this gene.

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          More Information


          Set Membership:

          HapMap

          Gene Ontology Categories:

          Function(s) Process(es)

          protein dephosphorylation
          positive regulation of insulin secretion involved in cellular response to glucose stimulus
          peptidyl-histidine dephosphorylation
          negative regulation of T cell receptor signaling pathway
          negative regulation of lyase activity
          positive regulation of cell motility
          regulation of actin cytoskeleton reorganization
          negative regulation of ATP citrate synthase activity
          phosphoprotein phosphatase activity
          phosphohistidine phosphatase activity
          calcium channel inhibitor activity
          ion channel binding

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