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

Chr.16:2277621 on build GRCh38
Cytoband
16p13.3
Assay ID Hs02750604_cn
Size
Availability Made To Order
Catalog # 4400291
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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 32 - Exon 32
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 LOC107987233 NPRL3 PRR35 LINC00254 RPL23AP5 SNORA78 MAPK8IP3 PIGQ METRN UNKL RHBDF1 NUBP2 LOC106660606 LOC105371047 C1QTNF8 ECI1 SSTR5-AS1 SNORA10 PGP KCTD5 LMF1-AS1 LOC100287175 RNF151 SLC9A3R2 POLR3K UBE2I MIR6768 RAB40C PRR25 MIR6859-4 MCRIP2 TMEM8A SNORA64 C16orf91 STUB1 PDPK1 RAB26 HBM SOX8 MIR4516 MIR3178 TBL3 TSC2 DDX11L10 NOXO1 TMEM204 IGFALS MRPS34 SNHG19 C16orf59 MRPL28 NPW TPSG1 MIR3180-5 LOC105371184 WDR24 PDIA2 CACNA1H CAPN15 HBA2 HBA1 FLJ42627 RPUSD1 LOC105371038 MIR6767 NHLRC4 JMJD8 ABCA3 RHBDL1 BAIAP3 DNASE1L2 LINC00235 MSLN MIR3677 MIR940 HN1L NME3 GNG13 NTN3 METTL26 TPSD1 CEMP1 ARHGDIG PRSS27 LUC7L ERVK13-1 LOC652276 GNPTG E4F1 LOC105371045 TRAF7 BRICD5 WASIR2 FBXL16 MIR4717 MIR662 LOC101929280 AXIN1 RNPS1 GFER HAGH LOC105371046 MIR3176 PRSS29P CCDC154 CCDC78 MIR5587 TELO2 FAM234A SNRNP25 LOC105371049 SYNGR3 MIR6511B1 TBC1D24 CCNF NDUFB10 TPSB2 IFT140 CHTF18 AMDHD2 SPSB3 SNORD60 TPSAB1 MIR3177 NME4 NARFL DECR2 MSRB1 NTHL1 RGS11 LMF1 EME2 RPS2 RPL3L LOC729652 FAHD1 WFIKKN1 MPG PTX4 HBQ1 LOC107984876 TSR3 ATP6V0C MIR1225 HAGHL CASKIN1 RHOT2 SNHG9 PKD1 HBZ MEIOB WDR90 CLCN7 ZNF598 LOC100134368 HS3ST6 MLST8 SSTR5 RAB11FIP3 ABCA17P FAM173A CRAMP1
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss RAB26 MIR4516 TBL3 TSC2 SNORD60 NOXO1 NTHL1 LOC106660606 SNHG19 E4F1 ECI1 TRAF7 BRICD5 NPW MIR3180-5 PGP MIR4717 MIR1225 SLC9A3R2 CASKIN1 RNPS1 PKD1 GFER ABCA3 DNASE1L2 ZNF598 MIR3677 LOC105371049 SYNGR3 MLST8 MIR6511B1 MIR940
nsv571201 Chr.16:2255538 - 2365929 on Build GRCh38 Loss MIR4717 ABCA3 LOC106660606 MIR3677 RNPS1 MIR940 ABCA17P
nsv1052260 Chr.16:2074546 - 2629655 on Build GRCh38 Gain TBC1D24 CCNF RAB26 MIR4516 MIR3178 AMDHD2 TSC2 SNORD60 NTN3 LOC106660606 CEMP1 SNHG19 C16orf59 LOC729652 LOC652276 E4F1 ECI1 TRAF7 BRICD5 MIR3180-5 PGP ATP6V0C MIR4717 MIR1225 CASKIN1 RNPS1 PKD1 MIR6768 MIR6767 ABCA3 DNASE1L2 MIR3677 LOC105371049 MLST8 MIR6511B1 MIR940 ABCA17P PDPK1
nsv952902 Chr.16:2143400 - 2339999 on Build GRCh38 Deletion RAB26 MIR4717 CASKIN1 RNPS1 SNORD60 ABCA3 LOC106660606 DNASE1L2 MIR3677 SNHG19 MLST8 E4F1 ECI1 TRAF7 BRICD5 MIR940 PGP

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