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          • › Search Tool
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          • › C_102289301_10
          See other DNAH17 GT Assays ›
          SNP ID:
          rs78023288
          Gene
          DNAH17 PGS1
          Gene Name
          dynein axonemal heavy chain 17
          phosphatidylglycerophosphate synthase 1
          Set Membership:
          -
          Chromosome Location:
          Chr.17: 78424004 - 78424004 on Build GRCh38
          Polymorphism:
          C/T, Transition substitution
          Context Sequence [VIC/FAM]:

          GTCCAGACATAGGTGGGGCCGCGGA[C/T]GCGTGTTTTGTACACGGGACACTCA

          Assay ID C_102289301_10
          Size
          Availability Made To Order
          Catalog # 4351379
          Price
          Your Price
          Online offer:
          Check your price ›
          • Genomic Map
          • Assay Details
          • More Information

          Genomic Map

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          Assay Details



          Species:

          Human

          dbSNP Submissions:

          NA

          Phenotype:

          MIM: 610063 MIM: 614942

          Literature Links:

          DNAH17 PubMed Links

          Allele Nomenclature:

          Minor Allele Frequency:

          1000Genome Applied Biosystems® HapMap
          Global
          C (0.02)
          (0.98)
          Caucasian - Not Available CEPH (CEU) - Not Available
          EAS
          C (0.08)
          (0.92)
          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 (0.02)
          (0.98)
          DNAH17 - dynein axonemal heavy chain 17
          Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
          NM_173628.3 5954 Missense Mutation ATC,GTC I,V 4431 NP_775899.3
          XM_011525416.2 5954 Missense Mutation ATC,GTC I,V 4435 XP_011523718.1
          XM_017025261.1 5954 Missense Mutation ATC,GTC I,V 2213 XP_016880750.1
          PGS1 - phosphatidylglycerophosphate synthase 1
          Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
          NM_024419.4 5954 Intron NP_077733.3
          XM_011525487.2 5954 Intron XP_011523789.1
          XM_011525488.2 5954 Intron XP_011523790.1
          XM_011525489.2 5954 UTR 3 XP_011523791.1
          XM_017025357.1 5954 UTR 3 XP_016880846.1
          XM_017025358.1 5954 UTR 3 XP_016880847.1
          XM_017025359.1 5954 UTR 3 XP_016880848.1
          XM_017025360.1 5954 UTR 3 XP_016880849.1
          XM_017025361.1 5954 UTR 3 XP_016880850.1
          XM_017025362.1 5954 UTR 3 XP_016880851.1
          XM_017025363.1 5954 Intron XP_016880852.1
          XM_017025364.1 5954 UTR 3 XP_016880853.1
          XM_017025365.1 5954 Intron XP_016880854.1
          XM_017025366.1 5954 Intron XP_016880855.1

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          More Information


          Panther Classification:

          Molecular Function -

          microtubule binding motor protein transferase metabolite interconversion enzyme

          Gene Ontology Categories:

          Function(s) Process(es)

          cilium or flagellum-dependent cell motility
          microtubule-based movement
          phosphatidylglycerol biosynthetic process
          cardiolipin biosynthetic process
          diacylglycerol metabolic process
          microtubule motor activity
          ATP binding
          ATPase activity
          calcium ion binding
          CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity

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