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

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