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See other ABCA3 CNV Assays ›
Gene Symbol
ABCA3
Assay Reference Genome
Location

Chr.16:2284306 on build GRCh38
Cytoband
16p13.3
Assay ID Hs02787842_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 21

Gene Name:

 ATP binding cassette subfamily A member 3

Gene Aliases:

 ABC-C, ABC3, EST111653, LBM180, SMDP3

Location:

 Chr.16:2275878-2340746 on Build GRCh38

Assay Gene Location:

 Overlaps Intron 25 - Exon 25
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
ABCA3 NM_001089.2 NP_001080.2
AB070929.1 BAB86781.1
AB210044.1 BAE06126.1
BC140895.1
BC146866.1
BC151840.1
U78735.1 AAC50967.1
X97187.1 CAA65825.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv2422427 Chr.16:10001 - 2723164 on Build GRCh38 Duplication ATP6V0C WASIR2 RHBDF1 PIGQ LOC100287175 MIR3178 SNORA78 RPS2 FLJ42627 DDX11L10 LOC106660606 SNORA64 NPRL3 RAB11FIP3 BAIAP3 CACNA1H MSRB1 IGFALS MIR5587 HAGHL TBC1D24 MIR940 MCRIP2 LMF1 NHLRC4 RPL23AP5 PRR35 SSTR5 CASKIN1 UNKL AMDHD2 NARFL ABCA17P HS3ST6 SNHG9 TPSD1 RAB40C TPSAB1 NME3 LOC105371046 SOX8 LOC107984876 LOC729652 MIR6511B1 LOC100134368 PGP SLC9A3R2 EME2 HBM RPUSD1 TSC2 RNPS1 HBA1 NPW GFER CCDC154 PRSS29P METTL26 NTN3 MEIOB LOC105371049 SSTR5-AS1 CLCN7 SNORA10 HN1L LINC00254 E4F1 RNF151 NTHL1 HBZ ZNF598 RHOT2 UBE2I DNASE1L2 HBQ1 LUC7L TPSG1 CAPN15 C16orf59 ECI1 LOC652276 WDR24 TBL3 LOC105371045 FAM173A RGS11 MSLN LOC101929280 GNPTG CCNF MIR3677 FAHD1 MIR3176 WDR90 AXIN1 ERVK13-1 PKD1 MIR4717 MIR662 SNRNP25 IFT140 LOC105371038 PRR25 TRAF7 MRPS34 MIR1225 FAM234A TPSB2 LINC00235 MAPK8IP3 TMEM8A CEMP1 GNG13 NOXO1 LOC105371047 JMJD8 LOC105371184 MIR3177 MPG LOC107987233 SNHG19 MIR6768 METRN DECR2 MIR3180-5 FBXL16 LMF1-AS1 TELO2 RHBDL1 STUB1 MIR6767 NUBP2 SNORD60 PDIA2 SYNGR3 CHTF18 NDUFB10 CCDC78 BRICD5 PDPK1 ARHGDIG MLST8 CRAMP1 PRSS27 NME4 HAGH WFIKKN1 KCTD5 POLR3K RAB26 SPSB3 ABCA3 MIR4516 TSR3 MRPL28 RPL3L C16orf91 MIR6859-4 TMEM204 HBA2 C1QTNF8 PTX4
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss MIR3180-5 TBL3 MIR6511B1 PGP SLC9A3R2 LOC106660606 MIR3677 SNORD60 SYNGR3 TSC2 RNPS1 PKD1 MIR4717 NPW GFER BRICD5 MLST8 TRAF7 MIR940 MIR1225 RAB26 LOC105371049 E4F1 ABCA3 NTHL1 MIR4516 ZNF598 CASKIN1 DNASE1L2 NOXO1 SNHG19 ECI1
nsv571201 Chr.16:2255538 - 2365929 on Build GRCh38 Loss RNPS1 MIR4717 ABCA17P ABCA3 LOC106660606 MIR3677 MIR940
nsv1052260 Chr.16:2074546 - 2629655 on Build GRCh38 Gain MIR3180-5 ATP6V0C LOC729652 MIR3178 MIR6511B1 PGP CCNF MIR6767 LOC106660606 MIR3677 SNORD60 TSC2 RNPS1 PKD1 MIR4717 TBC1D24 BRICD5 PDPK1 MLST8 TRAF7 MIR940 MIR1225 NTN3 RAB26 LOC105371049 E4F1 ABCA3 MIR4516 CASKIN1 CEMP1 DNASE1L2 AMDHD2 ABCA17P SNHG19 C16orf59 MIR6768 ECI1 LOC652276
nsv952902 Chr.16:2143400 - 2339999 on Build GRCh38 Deletion RAB26 E4F1 PGP ABCA3 LOC106660606 MIR3677 CASKIN1 DNASE1L2 SNORD60 RNPS1 MIR4717 BRICD5 SNHG19 ECI1 MLST8 TRAF7 MIR940
nsv571202 Chr.16:2278649 - 2289619 on Build GRCh38 Loss ABCA3

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