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

Chr.16:2284389 on build GRCh38
Cytoband
16p13.3
Assay ID Hs01203009_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 24 - 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 LINC00235 WDR24 KCTD5 DDX11L10 TBC1D24 LOC652276 MPG MIR940 CRAMP1 DECR2 MIR4516 IFT140 EME2 RNPS1 SNORA78 NTN3 MLST8 HN1L SSTR5-AS1 LINC00254 GFER LOC107984876 HBQ1 SSTR5 RAB26 CLCN7 MIR4717 NUBP2 MRPL28 TPSG1 PDPK1 TMEM204 MIR3180-5 LMF1 LOC729652 ERVK13-1 MIR6859-4 GNG13 NDUFB10 JMJD8 HBA1 CEMP1 ECI1 CACNA1H DNASE1L2 METTL26 TPSAB1 FAHD1 MIR6767 LOC105371184 SYNGR3 NPRL3 CCNF NARFL HS3ST6 TMEM8A TPSB2 GNPTG PTX4 CCDC154 E4F1 FAM173A WFIKKN1 SLC9A3R2 UBE2I FLJ42627 MSRB1 STUB1 CCDC78 NHLRC4 ARHGDIG AMDHD2 TELO2 UNKL LOC101929280 LOC105371049 HAGH TPSD1 PGP PRSS29P LOC100134368 LOC105371046 MIR3177 NME3 NPW WASIR2 BRICD5 CAPN15 PDIA2 LOC107987233 HBZ RHOT2 PRR25 RAB40C IGFALS C1QTNF8 MIR5587 RPUSD1 MEIOB RPS2 SNORD60 TRAF7 NTHL1 TSC2 WDR90 RPL23AP5 MIR3178 MIR3176 HBM NME4 SNRNP25 FAM234A RNF151 TBL3 PRSS27 C16orf91 FBXL16 MIR6768 LOC105371038 MIR3677 SPSB3 RHBDL1 NOXO1 SOX8 C16orf59 RHBDF1 TSR3 LOC105371047 LMF1-AS1 CHTF18 POLR3K HAGHL MIR1225 ABCA3 PKD1 RPL3L ZNF598 MCRIP2 LOC100287175 LUC7L CASKIN1 PRR35 MRPS34 ABCA17P SNORA64 LOC105371045 RGS11 RAB11FIP3 SNHG19 MSLN HBA2 MAPK8IP3 MIR6511B1 ATP6V0C MIR662 PIGQ SNORA10 AXIN1 SNHG9 METRN LOC106660606 BAIAP3
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss ECI1 MIR940 NPW DNASE1L2 BRICD5 MIR4516 SYNGR3 RNPS1 MIR1225 ABCA3 PKD1 MLST8 SNORD60 TRAF7 NTHL1 TSC2 ZNF598 CASKIN1 E4F1 GFER SLC9A3R2 SNHG19 TBL3 RAB26 MIR4717 MIR6511B1 MIR3677 MIR3180-5 LOC105371049 PGP LOC106660606 NOXO1
nsv457353 Chr.16:2255538 - 2365929 on Build GRCh38 Loss MIR4717 RNPS1 ABCA3 MIR940 MIR3677 ABCA17P LOC106660606
nsv1052260 Chr.16:2074546 - 2629655 on Build GRCh38 Gain C16orf59 CEMP1 TBC1D24 LOC652276 ECI1 MIR940 DNASE1L2 BRICD5 MIR6767 MIR4516 RNPS1 MIR1225 ABCA3 CCNF PKD1 NTN3 MLST8 SNORD60 TRAF7 TSC2 MIR3178 CASKIN1 E4F1 ABCA17P SNHG19 RAB26 MIR4717 MIR6511B1 ATP6V0C PDPK1 AMDHD2 MIR6768 MIR3677 MIR3180-5 LOC105371049 PGP LOC729652 LOC106660606
nsv952902 Chr.16:2143400 - 2339999 on Build GRCh38 Deletion CASKIN1 E4F1 ECI1 MIR940 DNASE1L2 BRICD5 SNHG19 RAB26 MIR4717 RNPS1 ABCA3 MIR3677 PGP MLST8 SNORD60 TRAF7 LOC106660606
nsv571202 Chr.16:2278649 - 2289619 on Build GRCh38 Loss ABCA3

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