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

Chr.16:2287681 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03944084_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:

 Within Intron 21
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 GNG13 TPSD1 FAM173A LOC105371049 RPL3L NOXO1 LOC105371045 NPRL3 C16orf91 SNORA10 LOC101929280 C16orf59 HBQ1 HN1L STUB1 MIR662 DDX11L10 TELO2 SNORD60 TPSG1 MSLN LINC00254 MIR3178 LOC105371038 MIR6767 LOC107984876 MSRB1 RPL23AP5 ABCA17P LOC107987233 MIR3177 TMEM204 LOC652276 MIR3677 MIR4516 FBXL16 MIR940 PRR35 MPG NTHL1 SOX8 HBZ JMJD8 CHTF18 RNPS1 UBE2I PIGQ SNHG9 PGP LMF1-AS1 TPSB2 IGFALS RAB40C CEMP1 LOC100134368 MIR3180-5 PDIA2 MIR3176 SYNGR3 NUBP2 METTL26 ATP6V0C AMDHD2 WFIKKN1 CCDC154 POLR3K TMEM8A RPS2 RGS11 CRAMP1 HAGHL PRSS29P NME4 NPW MIR4717 SNRNP25 LUC7L NARFL PTX4 LOC105371046 TPSAB1 MCRIP2 SSTR5-AS1 PDPK1 HBA2 RNF151 METRN FLJ42627 MAPK8IP3 SPSB3 NDUFB10 FAHD1 GFER DNASE1L2 SNORA64 PKD1 RHBDF1 C1QTNF8 MIR1225 LOC106660606 EME2 LMF1 MRPS34 SNORA78 TSC2 E4F1 LINC00235 TSR3 MIR5587 PRSS27 DECR2 HAGH BRICD5 ARHGDIG WDR24 CAPN15 LOC729652 NHLRC4 WDR90 HBM CLCN7 HS3ST6 SSTR5 NME3 CCNF NTN3 HBA1 MIR6511B1 IFT140 RPUSD1 SNHG19 UNKL MIR6859-4 ECI1 CCDC78 MRPL28 RHOT2 MIR6768 WASIR2 KCTD5 CASKIN1 BAIAP3 RAB11FIP3 CACNA1H RHBDL1 TBL3 LOC105371184 RAB26 ERVK13-1 MLST8 PRR25 TRAF7 GNPTG FAM234A ABCA3 SLC9A3R2 LOC100287175 LOC105371047 MEIOB TBC1D24 AXIN1 ZNF598
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss RNPS1 LOC105371049 NOXO1 MIR6511B1 PGP SNHG19 ECI1 GFER DNASE1L2 MIR3180-5 PKD1 SNORD60 MIR1225 SYNGR3 LOC106660606 CASKIN1 TSC2 TBL3 RAB26 MLST8 E4F1 TRAF7 MIR3677 MIR4516 MIR940 ABCA3 SLC9A3R2 NTHL1 BRICD5 NPW MIR4717 ZNF598
nsv457353 Chr.16:2255538 - 2365929 on Build GRCh38 Loss RNPS1 MIR3677 MIR940 ABCA3 ABCA17P MIR4717 LOC106660606
nsv1052260 Chr.16:2074546 - 2629655 on Build GRCh38 Gain RNPS1 LOC105371049 CCNF NTN3 PDPK1 MIR6511B1 PGP SNHG19 C16orf59 ECI1 CEMP1 MIR6768 DNASE1L2 MIR3180-5 PKD1 SNORD60 MIR1225 LOC106660606 ATP6V0C MIR3178 AMDHD2 CASKIN1 MIR6767 TSC2 ABCA17P RAB26 MLST8 E4F1 TRAF7 LOC652276 MIR3677 MIR4516 MIR940 ABCA3 BRICD5 MIR4717 TBC1D24 LOC729652
nsv952902 Chr.16:2143400 - 2339999 on Build GRCh38 Deletion RNPS1 CASKIN1 PGP SNHG19 RAB26 MLST8 E4F1 TRAF7 ECI1 MIR3677 MIR940 ABCA3 DNASE1L2 BRICD5 SNORD60 MIR4717 LOC106660606
nsv571202 Chr.16:2278649 - 2289619 on Build GRCh38 Loss ABCA3

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