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

Chr.16:2278948 on build GRCh38
Cytoband
16p13.3
Assay ID Hs00452958_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 29 - Exon 29
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 UBE2I IFT140 DNASE1L2 PGP MIR940 SLC9A3R2 STUB1 RNPS1 RGS11 HBZ MRPL28 ECI1 NTHL1 TPSB2 FAHD1 NUBP2 ARHGDIG C1QTNF8 TBL3 RHBDF1 SNORA78 TMEM204 BRICD5 AXIN1 LOC101929280 HN1L PTX4 MIR3176 SYNGR3 RPL23AP5 NOXO1 RNF151 MRPS34 HAGHL LOC100287175 ATP6V0C LOC105371184 SSTR5-AS1 WDR90 POLR3K CASKIN1 SNRNP25 MIR5587 NHLRC4 CCDC78 HS3ST6 LOC107987233 GNG13 SNHG19 LOC105371047 CAPN15 TPSAB1 LOC105371038 LMF1 LOC652276 FAM234A LOC105371049 MIR3178 RHBDL1 SNORD60 DECR2 CACNA1H MIR4516 GFER PDIA2 MSRB1 MIR3177 TPSD1 LOC105371046 NTN3 LOC107984876 LUC7L TMEM8A NME4 SNHG9 CCNF LOC106660606 MEIOB NARFL ERVK13-1 NME3 UNKL RHOT2 MPG SNORA64 CCDC154 TBC1D24 PRR35 RPUSD1 WFIKKN1 PRSS29P TRAF7 RPL3L MIR662 PDPK1 JMJD8 METTL26 CEMP1 SOX8 RAB26 FAM173A WDR24 MIR6768 MIR3677 FLJ42627 RAB11FIP3 HBM HBA1 KCTD5 PKD1 AMDHD2 E4F1 NPRL3 RAB40C EME2 ABCA3 CLCN7 FBXL16 C16orf91 MIR1225 MIR3180-5 SPSB3 CHTF18 MAPK8IP3 TELO2 ABCA17P RPS2 TPSG1 MIR6859-4 MSLN MIR4717 MIR6511B1 NDUFB10 GNPTG PRSS27 MLST8 LINC00254 PIGQ LMF1-AS1 IGFALS SNORA10 MCRIP2 LOC100134368 HBQ1 SSTR5 METRN DDX11L10 C16orf59 TSC2 PRR25 LINC00235 ZNF598 CRAMP1 LOC105371045 HAGH NPW MIR6767 HBA2 TSR3 LOC729652 BAIAP3 WASIR2
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss DNASE1L2 PGP MIR940 SNHG19 SLC9A3R2 RNPS1 MIR4717 MIR6511B1 TRAF7 LOC105371049 ECI1 NTHL1 MLST8 SNORD60 RAB26 MIR4516 MIR3677 GFER TBL3 BRICD5 TSC2 PKD1 SYNGR3 ZNF598 NOXO1 E4F1 LOC106660606 NPW ABCA3 CASKIN1 MIR1225 MIR3180-5
nsv457353 Chr.16:2255538 - 2365929 on Build GRCh38 Loss MIR940 RNPS1 ABCA17P ABCA3 MIR3677 MIR4717 LOC106660606
nsv1052260 Chr.16:2074546 - 2629655 on Build GRCh38 Gain TBC1D24 DNASE1L2 PGP MIR940 SNHG19 RNPS1 ABCA17P MIR4717 MIR6511B1 TRAF7 LOC652276 LOC105371049 ECI1 MIR3178 MLST8 SNORD60 PDPK1 CEMP1 RAB26 MIR6768 MIR4516 MIR3677 BRICD5 NTN3 C16orf59 TSC2 PKD1 AMDHD2 E4F1 CCNF LOC106660606 ATP6V0C MIR6767 ABCA3 LOC729652 CASKIN1 MIR1225 MIR3180-5
nsv952902 Chr.16:2143400 - 2339999 on Build GRCh38 Deletion DNASE1L2 PGP MIR940 SNHG19 RNPS1 MIR4717 TRAF7 ECI1 MLST8 E4F1 SNORD60 LOC106660606 RAB26 ABCA3 CASKIN1 MIR3677 BRICD5
nsv571202 Chr.16:2278649 - 2289619 on Build GRCh38 Loss ABCA3

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