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          • Home
          • › Search Tool
          • › Search Results
          • › Hs02417757_cn
          See other TRPS1 CNV Assays ›
          Gene Symbol
          TRPS1
          Assay Reference Genome
          Location

          Chr.8:115410831 on build GRCh38
          Cytoband
          8q23.3
          Assay ID Hs02417757_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:

          7227

          Gene Name:

          transcriptional repressor GATA binding 1

          Gene Aliases:

          GC79, LGCR

          Location:

          Chr.8:115408496-115669633 on Build GRCh38

          Assay Gene Location:

          Within Exon 11
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          TRPS1 NM_001282902.2 6 7179 NP_001269831.1
          NM_001282903.2 7 7668 NP_001269832.1
          NM_014112.4 7 7682 NP_054831.2
          XM_005251049.2 6 7497 XP_005251106.1
          XM_006716625.1 7 7619 XP_006716688.1
          XM_011517264.1 8 7752 XP_011515566.1
          XM_011517266.2 7 7487 XP_011515568.1
          XM_011517267.1 7 7605 XP_011515569.1
          XM_011517268.1 7 7594 XP_011515570.1
          XM_017013801.1 6 11281 XP_016869290.1
          AF183810.1 7 7676 AAF23614.1
          AK021511.1 1 689

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2016-05-15, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          nsv428205 Chr.8:115329343 - 115510682 on Build GRCh38 Gain TRPS1

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          More Information


          Additional Information:

          For this assay, SNP(s) [rs73363442] 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 Exonic DGV Variation

          Panther Classification:

          Molecular Function -

          DNA-binding transcription factor

          Gene Ontology Categories:

          Function(s) Process(es)

          negative regulation of transcription from RNA polymerase II promoter
          skeletal system development
          transcription from RNA polymerase II promoter
          NLS-bearing protein import into nucleus
          heart development
          organ morphogenesis
          tissue development
          regulation of chondrocyte differentiation
          cell fate commitment
          positive regulation of transcription from RNA polymerase II promoter
          cell development
          digestive tract development
          anatomical structure formation involved in morphogenesis
          RNA polymerase II regulatory region sequence-specific DNA binding
          RNA polymerase II transcription factor binding
          transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
          chromatin binding
          transcription factor activity, sequence-specific DNA binding
          protein binding
          zinc ion binding

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