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

Chr.16:2278478 on build GRCh38
Cytoband
16p13.3
Assay ID Hs02582257_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 29 - Exon 30
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 TPSG1 HBQ1 TELO2 FBXL16 STUB1 RNPS1 C16orf59 NOXO1 CASKIN1 CAPN15 SYNGR3 MAPK8IP3 SPSB3 LOC100134368 HS3ST6 RAB40C C1QTNF8 NPRL3 MSLN JMJD8 TPSD1 EME2 CLCN7 MIR3177 SSTR5-AS1 TPSB2 ECI1 RHBDF1 BAIAP3 PRR35 SNRNP25 ARHGDIG NTHL1 HBZ MIR3677 METTL26 MPG RPL3L CACNA1H UBE2I FAM173A TRAF7 SNORA78 MIR3176 RPS2 FAHD1 LOC101929280 NUBP2 AXIN1 MIR6511B1 PDIA2 TPSAB1 LOC105371047 HBA1 RPL23AP5 ZNF598 RHOT2 C16orf91 TMEM8A HBA2 AMDHD2 LOC106660606 MIR5587 NTN3 MLST8 MIR6768 RAB11FIP3 PIGQ LMF1 MIR940 ABCA3 PDPK1 SNHG9 MIR4717 SSTR5 LOC105371049 SNHG19 LOC105371038 MIR6767 LOC652276 DDX11L10 E4F1 NME4 TMEM204 PTX4 LOC105371184 SNORD60 SLC9A3R2 MIR3180-5 NARFL MIR4516 RHBDL1 ERVK13-1 RPUSD1 SNORA10 UNKL PRR25 TBC1D24 NDUFB10 MIR1225 MIR6859-4 GFER RGS11 NHLRC4 LOC100287175 WASIR2 GNG13 SNORA64 RAB26 DNASE1L2 LOC105371046 METRN CCDC78 RNF151 PGP ATP6V0C TSR3 CHTF18 LMF1-AS1 GNPTG TSC2 FLJ42627 MRPL28 MIR3178 POLR3K MSRB1 WDR90 ABCA17P LOC729652 CCNF KCTD5 WFIKKN1 CCDC154 HAGH MIR662 BRICD5 HAGHL HBM NME3 PRSS27 PRSS29P WDR24 IGFALS LOC105371045 SOX8 MEIOB CRAMP1 IFT140 TBL3 LUC7L FAM234A CEMP1 DECR2 LOC107984876 MRPS34 MCRIP2 NPW HN1L LOC107987233 LINC00254 PKD1 LINC00235
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss TSC2 E4F1 RNPS1 SNORD60 NOXO1 CASKIN1 SYNGR3 SLC9A3R2 MIR3180-5 MIR6511B1 MIR4516 ZNF598 BRICD5 LOC106660606 MIR1225 ECI1 MLST8 GFER TBL3 NTHL1 MIR3677 RAB26 NPW DNASE1L2 MIR940 ABCA3 PKD1 PGP MIR4717 TRAF7 LOC105371049 SNHG19
nsv457353 Chr.16:2255538 - 2365929 on Build GRCh38 Loss RNPS1 MIR940 ABCA3 ABCA17P MIR4717 MIR3677 LOC106660606
nsv1052260 Chr.16:2074546 - 2629655 on Build GRCh38 Gain MIR6767 TSC2 LOC652276 E4F1 RNPS1 SNORD60 C16orf59 MIR3178 CASKIN1 MIR3180-5 MIR6511B1 ABCA17P LOC729652 CCNF MIR4516 TBC1D24 AMDHD2 BRICD5 LOC106660606 MIR1225 ECI1 NTN3 MLST8 CEMP1 MIR6768 MIR3677 RAB26 DNASE1L2 MIR940 ABCA3 PDPK1 PKD1 PGP MIR4717 ATP6V0C TRAF7 LOC105371049 SNHG19
nsv952902 Chr.16:2143400 - 2339999 on Build GRCh38 Deletion ECI1 E4F1 RNPS1 MLST8 SNORD60 CASKIN1 MIR3677 RAB26 DNASE1L2 MIR940 ABCA3 BRICD5 PGP MIR4717 TRAF7 SNHG19 LOC106660606

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