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

Chr.16:2286895 on build GRCh38
Cytoband
16p13.3
Assay ID Hs02378062_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 21 - Exon 22
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 LOC105371038 GNPTG TPSG1 MIR6859-4 TBL3 SNORD60 WASIR2 E4F1 TMEM204 FBXL16 HS3ST6 RHBDL1 MLST8 RAB40C NTN3 KCTD5 PDIA2 LOC105371049 HBA1 TPSAB1 TSC2 BAIAP3 TELO2 PRR35 ABCA3 ZNF598 PRSS29P MIR3176 ARHGDIG LOC107984876 MSRB1 RPS2 SLC9A3R2 MIR3178 SNRNP25 WFIKKN1 MIR662 HAGH RAB11FIP3 NARFL LOC105371047 HBM PTX4 RHOT2 EME2 MAPK8IP3 UBE2I LMF1 SNHG19 WDR24 RNPS1 CAPN15 TRAF7 PGP WDR90 JMJD8 CCDC78 NHLRC4 PRR25 GNG13 MIR6511B1 LUC7L MIR5587 LOC100287175 C1QTNF8 NPW UNKL FAM173A FAHD1 LOC106660606 CLCN7 PKD1 CHTF18 MPG IFT140 CASKIN1 C16orf59 GFER LOC105371184 CRAMP1 NDUFB10 MIR6767 SYNGR3 TPSB2 LOC107987233 CCNF CCDC154 PIGQ RNF151 C16orf91 NME4 MSLN DNASE1L2 HN1L MIR4516 LOC729652 MIR3180-5 SNORA64 ERVK13-1 TSR3 PDPK1 FAM234A SNHG9 LINC00235 LOC100134368 DDX11L10 HAGHL MRPL28 MEIOB DECR2 BRICD5 MCRIP2 IGFALS TPSD1 MIR4717 SOX8 SNORA78 NOXO1 METTL26 STUB1 HBQ1 SNORA10 LOC105371045 MIR1225 MIR940 PRSS27 RHBDF1 NUBP2 POLR3K MIR6768 TBC1D24 NME3 RGS11 LINC00254 LOC105371046 ATP6V0C CACNA1H NTHL1 RAB26 TMEM8A SPSB3 ABCA17P ECI1 SSTR5 RPL23AP5 AMDHD2 LOC101929280 NPRL3 FLJ42627 LOC652276 METRN MRPS34 CEMP1 MIR3677 MIR3177 LMF1-AS1 HBA2 AXIN1 RPUSD1 SSTR5-AS1 HBZ RPL3L
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss SYNGR3 MIR1225 MIR940 SNHG19 TBL3 SNORD60 E4F1 RNPS1 TRAF7 PGP MLST8 DNASE1L2 MIR4516 MIR3180-5 MIR6511B1 NTHL1 RAB26 ECI1 LOC105371049 NPW TSC2 LOC106660606 ABCA3 ZNF598 BRICD5 MIR3677 PKD1 SLC9A3R2 MIR4717 CASKIN1 NOXO1 GFER
nsv457353 Chr.16:2255538 - 2365929 on Build GRCh38 Loss RNPS1 MIR3677 ABCA17P MIR940 MIR4717 LOC106660606 ABCA3
nsv1052260 Chr.16:2074546 - 2629655 on Build GRCh38 Gain MIR6767 MIR1225 CCNF MIR940 SNHG19 SNORD60 E4F1 RNPS1 MIR6768 TBC1D24 TRAF7 PGP MLST8 DNASE1L2 MIR4516 LOC729652 MIR3180-5 MIR6511B1 ATP6V0C NTN3 RAB26 ABCA17P ECI1 LOC105371049 PDPK1 TSC2 AMDHD2 LOC106660606 ABCA3 LOC652276 BRICD5 CEMP1 MIR3677 PKD1 MIR3178 MIR4717 CASKIN1 C16orf59
nsv952902 Chr.16:2143400 - 2339999 on Build GRCh38 Deletion RAB26 ECI1 MIR940 LOC106660606 ABCA3 SNHG19 SNORD60 E4F1 BRICD5 RNPS1 MIR3677 TRAF7 PGP MLST8 DNASE1L2 MIR4717 CASKIN1
nsv571202 Chr.16:2278649 - 2289619 on Build GRCh38 Loss ABCA3

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