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          • › Hs06467473_cn
          See other NFATC1 CNV Assays ›
          Gene Symbol
          NFATC1
          Assay Reference Genome
          Location

          Chr.18:79402199 on build GRCh38
          Cytoband
          18q23
          Assay ID Hs06467473_cn
          Size
          Availability Made To Order
          Catalog # 4400291
          Price
          Your Price
          Online offer:
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          • Genomic Map
          • Assay Details
          • More Information

          Genomic Map

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          Assay Details

          Target Gene Details

          Entrez Gene ID:

          4772

          Gene Name:

          nuclear factor of activated T-cells 1

          Gene Aliases:

          NF-ATC, NF-ATc1.2, NFAT2, NFATc

          Location:

          Chr.18:79395772-79529323 on Build GRCh38

          Assay Gene Location:

          Within Intron 2
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          NFATC1 NM_001278669.1 NP_001265598.1
          NM_001278670.1 NP_001265599.1
          NM_001278672.1 NP_001265601.1
          NM_001278673.1 NP_001265602.1
          NM_001278675.1 NP_001265604.1
          NM_006162.4 NP_006153.2
          NM_172387.2 NP_765975.1
          NM_172388.2 NP_765976.1
          NM_172389.2 NP_765977.1
          NM_172390.2 NP_765978.1
          XM_017025783.1 XP_016881272.1
          AK292641.1
          AK293760.1
          BC104753.1 AAI04754.1
          BC112243.1 AAI12244.1
          EU887559.1
          EU887560.1
          EU887561.1
          EU887562.1
          EU887563.1
          EU887564.1
          EU887565.1
          EU887566.1
          HY039825.1
          U08015.1 AAA19601.1
          U59736.1 AAC50869.1
          U80917.1 AAD00450.1
          U80918.1 AAD00451.1
          U80919.1 AAD00452.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2016-05-15, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          esv3643295 Chr.18:79233586 - 79591185 on Build GRCh38 Gain NFATC1 LOC284240 LOC107985149 ATP9B
          nsv577877 Chr.18:79388973 - 79404443 on Build GRCh38 Loss NFATC1
          nsv428359 Chr.18:79277548 - 80255221 on Build GRCh38 Gain CTDP1 ADNP2 HSBP1L1 RBFADN PARD6G RBFA LOC284240 LOC284241 LOC107985149 ATP9B NFATC1 KCNG2 TXNL4A PARD6G-AS1 PQLC1 LOC105376875
          nsv509706 Chr.18:79315089 - 79446158 on Build GRCh38 Insertion NFATC1 LOC107985149 ATP9B
          nsv953569 Chr.18:79395201 - 79465800 on Build GRCh38 Deletion NFATC1
          nsv525694 Chr.18:79395184 - 79961125 on Build GRCh38 Loss NFATC1 CTDP1 KCNG2 PQLC1 LOC105376875 LOC284240 LOC284241
          esv2717497 Chr.18:78170182 - 79635788 on Build GRCh38 Deletion NFATC1 LOC100996274 SALL3 LOC284240 LOC107985149 ATP9B
          nsv1141945 Chr.18:78170394 - 79635820 on Build GRCh38 Deletion NFATC1 LOC100996274 SALL3 LOC284240 LOC107985149 ATP9B
          nsv577873 Chr.18:79309720 - 79447124 on Build GRCh38 Gain NFATC1 LOC107985149 ATP9B
          nsv577794 Chr.18:78951366 - 79472709 on Build GRCh38 Gain NFATC1 LOC100996274 SALL3 LOC107985149 ATP9B
          nsv1065064 Chr.18:79091898 - 79405383 on Build GRCh38 Gain NFATC1 LOC100996274 LOC107985149 ATP9B
          nsv2380 Chr.18:79379557 - 79413441 on Build GRCh38 Insertion NFATC1
          nsv828344 Chr.18:79392644 - 79413780 on Build GRCh38 Gain NFATC1
          nsv1065902 Chr.18:78538045 - 80257174 on Build GRCh38 Gain CTDP1 ADNP2 HSBP1L1 RBFADN PARD6G RBFA LOC284240 LOC284241 LOC107985149 ATP9B NFATC1 KCNG2 TXNL4A LOC100996274 PARD6G-AS1 PQLC1 LOC105376875 SALL3
          nsv577875 Chr.18:79339963 - 79472709 on Build GRCh38 Loss NFATC1 LOC107985149 ATP9B
          esv2760476 Chr.18:79224569 - 79439105 on Build GRCh38 Gain+Loss NFATC1 LOC107985149 ATP9B

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          More Information


          Additional Information:

          For this assay, SNP(s) [rs139157786] 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 -

          Rel homology transcription factor

          Gene Ontology Categories:

          Function(s) Process(es)

          transcription from RNA polymerase II promoter
          Wnt signaling pathway, calcium modulating pathway
          negative regulation of Wnt signaling pathway
          calcineurin-NFAT signaling cascade
          intracellular signal transduction
          Fc-epsilon receptor signaling pathway
          positive regulation of transcription, DNA-templated
          positive regulation of transcription from RNA polymerase II promoter
          RNA polymerase II distal enhancer sequence-specific DNA binding
          RNA polymerase II transcription factor binding
          transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding
          transcription factor activity, sequence-specific DNA binding
          transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
          protein binding
          FK506 binding
          mitogen-activated protein kinase p38 binding

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