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

Chr.16:2281408 on build GRCh38
Cytoband
16p13.3
Assay ID Hs01144631_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 27 - Exon 27
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 MAPK8IP3 SOX8 MIR1225 PGP CACNA1H LOC105371046 E4F1 GNG13 MIR3178 RAB40C MIR662 PKD1 HAGH NPRL3 WFIKKN1 TELO2 SNORA78 C16orf59 SPSB3 GFER WASIR2 SNHG19 RGS11 METRN HBM FAHD1 RPS2 SNRNP25 NDUFB10 METTL26 CCDC154 AXIN1 CEMP1 NME4 LOC105371184 RNPS1 WDR90 LOC101929280 MRPL28 LUC7L SSTR5 RPL23AP5 PRR35 SNORD60 KCTD5 JMJD8 RPUSD1 MIR3180-5 IGFALS LINC00254 UBE2I TPSD1 TBL3 RAB11FIP3 TBC1D24 MIR4516 LOC729652 MIR3176 ZNF598 LOC107984876 MEIOB NUBP2 LOC105371038 RNF151 LMF1 NTN3 CASKIN1 PRSS27 SYNGR3 DECR2 HAGHL NPW CHTF18 ERVK13-1 CRAMP1 SNHG9 AMDHD2 MSRB1 MIR4717 TRAF7 FLJ42627 WDR24 PRSS29P MRPS34 CCDC78 MCRIP2 RHOT2 CCNF CLCN7 LOC106660606 HN1L UNKL FAM173A FAM234A ABCA3 GNPTG SSTR5-AS1 HBA2 STUB1 TPSB2 IFT140 RHBDF1 FBXL16 PDPK1 LOC100287175 MIR6768 PRR25 NTHL1 TPSG1 NHLRC4 ATP6V0C BAIAP3 LINC00235 EME2 MPG PDIA2 MIR940 LOC105371049 DNASE1L2 RPL3L RHBDL1 POLR3K LOC105371045 MIR6767 ECI1 CAPN15 HBZ PIGQ PTX4 NME3 MIR3177 BRICD5 C1QTNF8 RAB26 HBQ1 HBA1 MIR5587 NOXO1 TMEM8A MIR6511B1 SNORA64 DDX11L10 TSC2 MLST8 ABCA17P LOC107987233 MIR3677 SLC9A3R2 LOC652276 HS3ST6 SNORA10 LOC105371047 TSR3 ARHGDIG C16orf91 LOC100134368 TMEM204 MIR6859-4 MSLN NARFL TPSAB1 LMF1-AS1
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss MIR3180-5 LOC106660606 BRICD5 RAB26 TBL3 MIR1225 PGP NOXO1 ABCA3 MIR4516 E4F1 ZNF598 MIR6511B1 PKD1 TSC2 GFER NTHL1 SNHG19 MLST8 CASKIN1 MIR3677 SYNGR3 SLC9A3R2 MIR940 LOC105371049 DNASE1L2 RNPS1 NPW ECI1 MIR4717 TRAF7 SNORD60
nsv457353 Chr.16:2255538 - 2365929 on Build GRCh38 Loss MIR3677 LOC106660606 MIR4717 MIR940 ABCA3 ABCA17P RNPS1
nsv1052260 Chr.16:2074546 - 2629655 on Build GRCh38 Gain MIR3180-5 LOC106660606 BRICD5 RAB26 MIR1225 PGP TBC1D24 ABCA3 MIR4516 LOC729652 E4F1 MIR6511B1 MIR3178 PDPK1 PKD1 MIR6768 C16orf59 TSC2 NTN3 SNHG19 MLST8 ABCA17P ATP6V0C CASKIN1 MIR3677 LOC652276 CEMP1 MIR940 LOC105371049 DNASE1L2 RNPS1 AMDHD2 MIR6767 ECI1 MIR4717 TRAF7 SNORD60 CCNF
nsv952902 Chr.16:2143400 - 2339999 on Build GRCh38 Deletion MIR3677 LOC106660606 BRICD5 RAB26 PGP MIR940 ABCA3 DNASE1L2 E4F1 RNPS1 ECI1 MIR4717 TRAF7 SNORD60 SNHG19 MLST8 CASKIN1
nsv571202 Chr.16:2278649 - 2289619 on Build GRCh38 Loss ABCA3

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