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          • Home
          • › Search Tool
          • › Search Results
          • › Hs04465857_cn
          See other ABR CNV Assays ›
          Gene Symbol
          ABR
          Assay Reference Genome
          Location

          Chr.17:1101487 on build GRCh38
          Cytoband
          17p13.3
          Assay ID Hs04465857_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:

          29

          Gene Name:

          active BCR-related

          Gene Aliases:

          MDB

          Location:

          Chr.17:1003518-1229713 on Build GRCh38

          Assay Gene Location:

          Within Intron 8
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          ABR NM_001092.4 NP_001083.2
          NM_001159746.2 NP_001153218.1
          NM_001322840.1 NP_001309769.1
          NM_001322841.1 NP_001309770.1
          NM_021962.4 NP_068781.2
          XM_011523810.2 XP_011522112.1
          XM_011523811.2 XP_011522113.2
          XM_011523812.2 XP_011522114.1
          XM_011523813.2 XP_011522115.1
          XM_011523814.2 XP_011522116.1
          XM_011523815.2 XP_011522117.1
          XM_017024539.1 XP_016880028.1
          XM_017024540.1 XP_016880029.1
          XM_017024541.1 XP_016880030.1
          AK124547.1
          AK126882.1 BAC86734.1
          AK295191.1
          AK302682.1
          AK307827.1
          BE675741.1
          BM827672.1
          DA106008.1
          DR003682.1
          U01147.1 AAC50063.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2016-05-15, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          dgv3081n100 Chr.17:1095450 - 1360904 on Build GRCh38 Gain ABR TUSC5 YWHAE BHLHA9
          esv3582465 Chr.17:810128 - 1198045 on Build GRCh38 Loss ABR LOC100130876 MIR3183 LOC101927727 NXN TIMM22
          nsv833333 Chr.17:1075659 - 1138453 on Build GRCh38 Loss ABR
          nsv827852 Chr.17:950823 - 1269504 on Build GRCh38 Gain ABR MIR3183 NXN TIMM22
          nsv833332 Chr.17:1057039 - 1148078 on Build GRCh38 Loss ABR
          nsv952096 Chr.17:1064861 - 1162806 on Build GRCh38 Deletion ABR
          esv2758673 Chr.17:718346 - 1158111 on Build GRCh38 Gain ABR GEMIN4 FAM57A LOC100130876 GLOD4 MIR3183 DBIL5P LOC101927727 NXN MRM3 TIMM22
          dgv3080n100 Chr.17:987971 - 1330752 on Build GRCh38 Gain ABR TUSC5 MIR3183 BHLHA9 TIMM22
          nsv509644 Chr.17:1025673 - 1214403 on Build GRCh38 Insertion ABR
          nsv470566 Chr.17:992950 - 1107238 on Build GRCh38 Loss ABR MIR3183 TIMM22
          esv2422420 Chr.17:210752 - 1113141 on Build GRCh38 Duplication ABR FAM57A LOC105371430 NXN MRM3 LOC100506388 RPH3AL VPS53 GEMIN4 LOC100130876 GLOD4 MIR3183 DBIL5P LOC101927727 FAM101B C17orf97 TIMM22
          nsv1064415 Chr.17:801817 - 1218541 on Build GRCh38 Gain ABR LOC100130876 MIR3183 LOC101927727 NXN TIMM22
          esv2751769 Chr.17:832528 - 1103206 on Build GRCh38 Gain ABR LOC100130876 MIR3183 LOC101927727 NXN TIMM22

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          More Information


          Set Membership:

          Intragenic Intronic Non-exonic DGV Variation

          Panther Classification:

          Molecular Function -

          G-protein modulator

          Gene Ontology Categories:

          Function(s) Process(es)

          negative regulation of cellular extravasation
          small GTPase mediated signal transduction
          brain development
          actin cytoskeleton organization
          response to lipopolysaccharide
          regulation of Rho protein signal transduction
          inner ear morphogenesis
          positive regulation of apoptotic process
          regulation of vascular permeability
          negative regulation of neutrophil degranulation
          positive regulation of GTPase activity
          negative regulation of inflammatory response
          positive regulation of phagocytosis
          neuromuscular process controlling balance
          regulation of small GTPase mediated signal transduction
          negative regulation of blood vessel remodeling
          guanyl-nucleotide exchange factor activity
          Rho guanyl-nucleotide exchange factor activity
          GTPase activator activity

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          git-commit: 5b8c860b7cdb41e9cfe07630520f6b51e109d38e
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