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

Chr.16:2276771 on build GRCh38
Cytoband
16p13.3
Assay ID Hs00398036_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 32 - Exon 33
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 ATP6V0C TMEM8A WDR90 SNRNP25 FAM173A AMDHD2 FAM234A CLCN7 LOC101929280 SNORA10 NTN3 E4F1 WASIR2 SLC9A3R2 MPG WDR24 SNORA78 WFIKKN1 FLJ42627 CRAMP1 NHLRC4 LOC100134368 ABCA3 TPSG1 NUBP2 LOC105371184 TPSD1 UNKL RPL23AP5 LOC105371049 CEMP1 SOX8 HBA2 SSTR5-AS1 TSR3 CHTF18 C16orf91 LOC729652 PIGQ LMF1 GNPTG MSRB1 MRPL28 DDX11L10 HAGH NPW LUC7L SNORA64 PDPK1 MIR6859-4 MIR6768 LMF1-AS1 PGP JMJD8 NTHL1 NARFL MIR6511B1 ARHGDIG MIR3677 ABCA17P RNF151 SSTR5 HN1L LOC106660606 SNHG19 MIR662 LOC105371047 MIR3178 MIR5587 TMEM204 CAPN15 PDIA2 LOC107987233 SNHG9 C1QTNF8 RGS11 TBC1D24 DECR2 HBZ RHBDL1 LOC107984876 GFER DNASE1L2 EME2 LOC105371046 PKD1 CACNA1H BRICD5 MEIOB TSC2 MIR3177 MIR3176 LOC100287175 FAHD1 KCTD5 RPL3L CASKIN1 PRSS27 NPRL3 MIR6767 RNPS1 RAB11FIP3 SPSB3 RHOT2 BAIAP3 NME3 LINC00235 RAB26 MCRIP2 GNG13 NOXO1 METTL26 HS3ST6 ECI1 PTX4 RPS2 LOC652276 ZNF598 IGFALS CCDC78 AXIN1 MRPS34 RHBDF1 IFT140 HBA1 FBXL16 ERVK13-1 MIR3180-5 HAGHL RAB40C TPSAB1 HBM CCNF TRAF7 TPSB2 MLST8 NME4 LOC105371045 SYNGR3 TBL3 RPUSD1 MAPK8IP3 METRN NDUFB10 C16orf59 MIR4516 PRR35 HBQ1 SNORD60 MSLN TELO2 CCDC154 PRSS29P POLR3K STUB1 LOC105371038 MIR1225 LINC00254 MIR940 MIR4717 PRR25 UBE2I
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss ZNF598 MIR3180-5 E4F1 NPW GFER SLC9A3R2 TRAF7 MLST8 DNASE1L2 PGP PKD1 NTHL1 BRICD5 SYNGR3 TSC2 MIR6511B1 TBL3 MIR3677 CASKIN1 LOC106660606 ABCA3 SNHG19 MIR4516 RNPS1 SNORD60 RAB26 LOC105371049 NOXO1 MIR1225 MIR940 MIR4717 ECI1
nsv571201 Chr.16:2255538 - 2365929 on Build GRCh38 Loss ABCA17P LOC106660606 ABCA3 MIR940 RNPS1 MIR4717 MIR3677
nsv1052260 Chr.16:2074546 - 2629655 on Build GRCh38 Gain ATP6V0C LOC729652 LOC652276 AMDHD2 TBC1D24 MIR3180-5 NTN3 E4F1 PDPK1 CCNF TRAF7 MLST8 DNASE1L2 MIR6768 PGP PKD1 BRICD5 TSC2 MIR6511B1 MIR3677 CASKIN1 ABCA17P LOC106660606 C16orf59 ABCA3 SNHG19 MIR6767 MIR4516 RNPS1 SNORD60 MIR3178 RAB26 LOC105371049 CEMP1 MIR1225 MIR940 MIR4717 ECI1
nsv952902 Chr.16:2143400 - 2339999 on Build GRCh38 Deletion CASKIN1 LOC106660606 ABCA3 SNHG19 RNPS1 SNORD60 E4F1 RAB26 TRAF7 MLST8 DNASE1L2 PGP MIR940 BRICD5 MIR4717 ECI1 MIR3677

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