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          • Home
          • › Search Tool
          • › Search Results
          • › Hs07036188_cn
          See other ATP8A2 CNV Assays ›
          Gene Symbol
          ATP8A2
          Assay Reference Genome
          Location

          Chr.13:25518056 on build GRCh38
          Cytoband
          13q12.13
          Assay ID Hs07036188_cn
          Size
          Availability Made To Order
          Catalog # 4400291
          Price
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          • Genomic Map
          • Assay Details
          • More Information

          Genomic Map

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          Assay Details

          Target Gene Details

          Entrez Gene ID:

          51761

          Gene Name:

          ATPase phospholipid transporting 8A2

          Gene Aliases:

          ATP, ATPIB, CAMRQ4, IB, ML-1

          Location:

          Chr.13:25372011-26025851 on Build GRCh38

          Assay Gene Location:

          Within Intron 6
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          ATP8A2 NM_001313741.1 NP_001300670.1
          NM_016529.5 NP_057613.4
          XM_005266419.1 XP_005266476.1
          XM_011535103.1 XP_011533405.1
          XM_011535104.2 XP_011533406.1
          XM_011535106.1 XP_011533408.1
          XM_011535107.2 XP_011533409.1
          XM_011535109.2 XP_011533411.1
          XM_011535112.1 XP_011533414.1
          XM_011535113.2 XP_011533415.1
          XM_017020625.1 XP_016876114.1
          XM_017020626.1 XP_016876115.1
          AF236871.2 AAF40215.2
          AK126031.1 BAC86402.1
          AK127263.1 BAC86905.1
          AK302980.1
          DA326706.1
          HY026915.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2016-05-15, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          esv2747161 Chr.13:25031743 - 26209531 on Build GRCh38 Deletion AMER2 PABPC3 SHISA2 ATP8A2 NUP58 MTMR6 LINC01053 LINC00463 RNF6

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          More Information


          Additional Information:

          For this assay, SNP(s) [rs73479675] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

          Set Membership:

          Intragenic Intronic Non-exonic DGV Variation

          Panther Classification:

          Molecular Function -

          primary active transporter

          Gene Ontology Categories:

          Function(s) Process(es)

          involuntary skeletal muscle contraction
          axonogenesis
          aging
          negative regulation of cell proliferation
          retina layer formation
          positive regulation of neuron projection development
          response to auditory stimulus
          positive regulation of multicellular organism growth
          inner ear morphogenesis
          eating behavior
          skin development
          phospholipid translocation
          Golgi vesicle budding
          neuron development
          neuromuscular process controlling posture
          detection of light stimulus involved in visual perception
          neurofilament cytoskeleton organization
          positive regulation of phospholipid translocation
          magnesium ion binding
          phospholipid-translocating ATPase activity
          ATP binding

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