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          • Home
          • › Search Tool
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          • › C__30228272_10
          See other IMMP2L GT Assays ›
          SNP ID:
          rs9987043
          Gene
          IMMP2L LRRN3
          Gene Name
          inner mitochondrial membrane peptidase subunit 2
          leucine rich repeat neuronal 3
          Set Membership:
          > HapMap
          Chromosome Location:
          Chr.7: 111103038 - 111103038 on Build GRCh38
          Polymorphism:
          G/T, Transversion substitution
          Context Sequence [VIC/FAM]:

          CTTTTTTAAGACTACAGTGTCCATT[G/T]ATCATAGTGACTTCACAGTTTTCAT

          Assay ID C__30228272_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: 605977

          Literature Links:

          IMMP2L PubMed Links

          Allele Nomenclature:

          Minor Allele Frequency:

          1000Genome Applied Biosystems® HapMap
          Global
          T (0.04)
          (0.96)
          Caucasian - Not Available CEPH (CEU) - Not Available
          EAS
          T (0.00)
          (1.00)
          African American - Not Available YRI (Yoruba)
          T (0.11)
          (0.89)
          SAS
          T (0.00)
          (1.00)
          Chinese - Not Available CHB (Han Chinese) - Not Available
          AFR
          T (0.15)
          (0.85)
          Japanese - Not Available JPT (Japanese) - Not Available
          EUR
          T (0.00)
          (1.00)
          AMR
          T (0.01)
          (0.99)
          IMMP2L - inner mitochondrial membrane peptidase subunit 2
          Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
          NM_001244606.1 Intron NP_001231535.1
          NM_032549.3 Intron NP_115938.1
          XM_005250630.3 Intron XP_005250687.1
          XM_011516605.2 Intron XP_011514907.1
          XM_011516608.2 Intron XP_011514910.1
          XM_011516609.2 Intron XP_011514911.1
          XM_011516611.2 Intron XP_011514913.1
          XM_011516613.2 Intron XP_011514915.1
          XM_017012699.1 Intron XP_016868188.1
          XM_017012700.1 Intron XP_016868189.1
          XM_017012701.1 Intron XP_016868190.1
          XM_017012702.1 Intron XP_016868191.1
          XM_017012703.1 Intron XP_016868192.1
          XM_017012704.1 Intron XP_016868193.1
          XM_017012705.1 Intron XP_016868194.1
          LRRN3 - leucine rich repeat neuronal 3
          Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
          NM_001099658.1 Intron NP_001093128.1
          NM_001099660.1 Intron NP_001093130.1
          NM_018334.4 Intron NP_060804.3

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          More Information


          Set Membership:

          HapMap

          Panther Classification:

          Molecular Function -

          protease transmembrane signal receptor

          Gene Ontology Categories:

          Function(s) Process(es)

          ovarian follicle development
          signal peptide processing
          protein processing involved in protein targeting to mitochondrion
          superoxide metabolic process
          cellular response to DNA damage stimulus
          spermatogenesis
          brain development
          blood circulation
          respiratory electron transport chain
          ovulation
          mitochondrial respiratory chain complex assembly
          cerebellum vasculature development
          serine-type endopeptidase activity
          peptidase activity

          Back To Top

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          git-commit: 5b8c860b7cdb41e9cfe07630520f6b51e109d38e
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