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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 ABCA17P STUB1 LOC100287175 RPS2 RPL23AP5 METTL26 MAPK8IP3 PDIA2 MIR940 MPG WDR90 LOC107984876 LOC652276 HBM TMEM204 SNRNP25 AMDHD2 GNG13 HN1L NOXO1 TMEM8A LOC729652 CHTF18 MCRIP2 NTN3 MIR6511B1 RPL3L TBL3 RHBDF1 MIR6768 MIR4516 JMJD8 LOC105371049 CRAMP1 MIR3677 ZNF598 CCDC78 DECR2 BRICD5 NDUFB10 PIGQ CASKIN1 MSRB1 CEMP1 HBZ UBE2I PRSS27 DDX11L10 MIR6859-4 NPW LINC00254 TPSAB1 LMF1-AS1 ATP6V0C RGS11 LOC100134368 HAGHL NME3 C1QTNF8 SNORA10 DNASE1L2 MRPL28 NARFL LOC106660606 ECI1 KCTD5 TELO2 NHLRC4 PDPK1 LOC107987233 TPSD1 RPUSD1 PRR25 LUC7L MIR662 MIR1225 C16orf91 LOC105371046 BAIAP3 MSLN LOC105371047 MRPS34 WASIR2 TPSG1 MLST8 HBA1 PRR35 LOC101929280 LMF1 SSTR5-AS1 MIR3177 SNORA78 SNHG19 NTHL1 MIR5587 HS3ST6 SLC9A3R2 RHOT2 GFER ERVK13-1 RNPS1 HBQ1 CLCN7 E4F1 SNORA64 FAM234A SNHG9 PTX4 WFIKKN1 EME2 SNORD60 CCDC154 GNPTG CAPN15 PRSS29P LOC105371184 NUBP2 ARHGDIG PKD1 IFT140 SOX8 CCNF MIR3176 MIR3180-5 AXIN1 LINC00235 HBA2 RAB26 ABCA3 MIR4717 METRN MIR6767 FAHD1 SYNGR3 HAGH FLJ42627 SSTR5 POLR3K RNF151 IGFALS FAM173A SPSB3 RAB40C C16orf59 NME4 PGP MIR3178 UNKL TRAF7 NPRL3 CACNA1H TPSB2 RHBDL1 RAB11FIP3 TSC2 TBC1D24 WDR24 LOC105371038 TSR3 FBXL16 MEIOB LOC105371045
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss PKD1 CASKIN1 MIR3180-5 RAB26 NPW ABCA3 MIR940 MIR4717 MLST8 SYNGR3 NOXO1 SNHG19 NTHL1 DNASE1L2 SLC9A3R2 LOC106660606 ECI1 GFER MIR6511B1 TBL3 RNPS1 PGP MIR4516 TRAF7 E4F1 LOC105371049 MIR3677 TSC2 ZNF598 SNORD60 MIR1225 BRICD5
nsv457353 Chr.16:2255538 - 2365929 on Build GRCh38 Loss MIR4717 ABCA17P MIR3677 LOC106660606 RNPS1 ABCA3 MIR940
nsv1052260 Chr.16:2074546 - 2629655 on Build GRCh38 Gain PKD1 ABCA17P CASKIN1 CEMP1 CCNF MIR3180-5 RAB26 ABCA3 MIR940 MIR4717 MLST8 MIR6767 LOC652276 AMDHD2 ATP6V0C SNHG19 LOC729652 DNASE1L2 LOC106660606 ECI1 NTN3 MIR6511B1 C16orf59 MIR6768 PDPK1 RNPS1 PGP MIR4516 MIR3178 TRAF7 E4F1 LOC105371049 MIR3677 TSC2 SNORD60 TBC1D24 MIR1225 BRICD5
nsv952902 Chr.16:2143400 - 2339999 on Build GRCh38 Deletion CASKIN1 DNASE1L2 LOC106660606 ECI1 RNPS1 PGP TRAF7 E4F1 RAB26 ABCA3 MIR940 MIR4717 MIR3677 MLST8 SNORD60 BRICD5 SNHG19
nsv571202 Chr.16:2278649 - 2289619 on Build GRCh38 Loss ABCA3

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