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          • Home
          • › Search Tool
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          • › Hs06875959_cn
          See other ABCA1 CNV Assays ›
          Gene Symbol
          ABCA1
          Assay Reference Genome
          Location

          Chr.9:104888332 on build GRCh38
          Cytoband
          9q31.1
          Assay ID Hs06875959_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:

          19

          Gene Name:

          ATP binding cassette subfamily A member 1

          Gene Aliases:

          ABC-1, ABC1, CERP, HDLDT1, TGD

          Location:

          Chr.9:104781002-104928246 on Build GRCh38

          Assay Gene Location:

          Within Intron 10
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          ABCA1 NM_005502.3 NP_005493.2
          XM_005251773.2 XP_005251830.1
          XM_005251776.2 XP_005251833.1
          XM_011518339.2 XP_011516641.1
          XM_011518340.2 XP_011516642.1
          XM_011518341.2 XP_011516643.1
          XM_011518342.2 XP_011516644.1
          XM_011518344.2 XP_011516646.1
          XM_017014378.1 XP_016869867.1
          XM_017014379.1 XP_016869868.1
          XM_017014380.1 XP_016869869.1
          XM_017014381.1 XP_016869870.1
          XM_017014382.1 XP_016869871.1
          AB037924.1 BAB07875.1
          AB055982.1 BAB63210.1
          AB445477.1
          AF165281.1 AAD49849.1
          AF258627.1 AAF69513.1
          AF285167.1 AAF98175.1
          AJ012376.1 CAA10005.1
          AK024328.1
          BC146856.1
          BX955241.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2016-05-15, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          dgv12831n54 Chr.9:104840397 - 104914659 on Build GRCh38 Loss ABCA1
          esv3891706 Chr.9:104480016 - 105304573 on Build GRCh38 Gain OR13C9 ABCA1 OR13C3 SLC44A1 OR13C8 OR13F1 OR13C4 LOC105376196 OR13C2 NIPSNAP3A OR13D1 OR13C5 NIPSNAP3B
          dgv12832n54 Chr.9:104856400 - 104893567 on Build GRCh38 Loss ABCA1
          nsv509315 Chr.9:104868060 - 104897299 on Build GRCh38 Insertion ABCA1
          esv3891705 Chr.9:104391828 - 106660921 on Build GRCh38 Loss FSD1L LINC01505 OR13C9 ABCA1 MIR8081 OR13C3 SLC44A1 OR13C8 OR13F1 OR13C4 LOC105376196 TMEM38B OR13C2 NIPSNAP3A TAL2 OR13D1 RALGAPA1P1 FKTN OR13C5 NIPSNAP3B
          nsv466471 Chr.9:104849546 - 104914659 on Build GRCh38 Loss ABCA1

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          More Information


          Set Membership:

          Intragenic Intronic Non-exonic DGV Variation

          Panther Classification:

          Molecular Function -

          ATP-binding cassette (ABC) transporter primary active transporter transporter

          Gene Ontology Categories:

          Function(s) Process(es)

          peptide secretion
          protein lipidation
          phagocytosis, engulfment
          lysosome organization
          G-protein coupled receptor signaling pathway
          response to nutrient
          cholesterol metabolic process
          negative regulation of macrophage derived foam cell differentiation
          positive regulation of cholesterol efflux
          negative regulation of cholesterol storage
          endosomal transport
          positive regulation of cAMP biosynthetic process
          intracellular cholesterol transport
          regulation of Cdc42 protein signal transduction
          cholesterol efflux
          phospholipid efflux
          high-density lipoprotein particle assembly
          response to laminar fluid shear stress
          apolipoprotein A-I-mediated signaling pathway
          lipoprotein metabolic process
          response to drug
          cholesterol homeostasis
          reverse cholesterol transport
          phospholipid translocation
          interleukin-1 beta secretion
          phospholipid homeostasis
          response to low-density lipoprotein particle
          platelet dense granule organization
          cellular response to lipopolysaccharide
          cellular response to retinoic acid
          cellular response to cholesterol
          anion transmembrane transport
          receptor binding
          protein binding
          ATP binding
          phospholipid binding
          phospholipid transporter activity
          anion transmembrane transporter activity
          cholesterol binding
          cholesterol transporter activity
          syntaxin binding
          small GTPase binding
          apolipoprotein binding
          apolipoprotein A-I binding
          apolipoprotein A-I receptor activity
          ATPase activity, coupled to transmembrane movement of substances
          ATPase binding

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