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

Chr.16:2289126 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03932194_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:

 Within Intron 20
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
AK310864.1 20 3571
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 GNG13 RHBDF1 LMF1-AS1 UBE2I HN1L E4F1 WDR24 CCNF CEMP1 IGFALS CHTF18 DNASE1L2 WFIKKN1 BAIAP3 MSRB1 NPW ARHGDIG AXIN1 C1QTNF8 PRSS29P NME4 MIR4717 NME3 BRICD5 LOC105371046 PRSS27 CLCN7 DECR2 KCTD5 WDR90 MIR6859-4 SNRNP25 TBL3 SLC9A3R2 RPUSD1 METRN MIR3178 TPSG1 RAB26 SNORA78 GNPTG ERVK13-1 LOC105371184 ABCA17P NHLRC4 HBQ1 MIR940 ATP6V0C NDUFB10 HAGH TPSAB1 PRR35 MPG RNPS1 SOX8 RAB11FIP3 WASIR2 MLST8 MIR3180-5 RHOT2 LOC105371049 HS3ST6 PTX4 MCRIP2 CACNA1H NUBP2 LOC652276 TPSB2 HBZ PGP SNHG19 MIR6767 SNORD60 MRPS34 MIR6511B1 LOC105371045 STUB1 MRPL28 HAGHL HBM HBA2 TMEM8A RAB40C RNF151 SYNGR3 TPSD1 PIGQ MIR1225 FAHD1 TMEM204 FLJ42627 LOC105371047 TELO2 GFER IFT140 FAM173A LOC729652 MIR6768 NTN3 LOC107984876 JMJD8 NOXO1 LOC107987233 ABCA3 RGS11 RPL23AP5 MIR5587 MIR3677 METTL26 SNORA10 MSLN CCDC78 SPSB3 LMF1 PKD1 LINC00235 LOC101929280 ZNF598 MIR662 MIR3176 CAPN15 MAPK8IP3 HBA1 CASKIN1 ECI1 PDPK1 SSTR5-AS1 CCDC154 AMDHD2 C16orf59 PRR25 NARFL TRAF7 EME2 PDIA2 MIR4516 DDX11L10 UNKL TSR3 NTHL1 RPS2 POLR3K SSTR5 LOC106660606 FAM234A NPRL3 LOC100134368 LINC00254 TBC1D24 RPL3L RHBDL1 SNHG9 LOC105371038 TSC2 MIR3177 C16orf91 LOC100287175 CRAMP1 LUC7L MEIOB SNORA64 FBXL16
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss TRAF7 MIR4516 GFER E4F1 RNPS1 NTHL1 MLST8 MIR3180-5 NOXO1 ABCA3 DNASE1L2 LOC105371049 NPW LOC106660606 MIR3677 MIR4717 BRICD5 PGP SNHG19 SNORD60 MIR6511B1 PKD1 ZNF598 TBL3 SLC9A3R2 TSC2 CASKIN1 ECI1 RAB26 SYNGR3 MIR1225 MIR940
nsv457353 Chr.16:2255538 - 2365929 on Build GRCh38 Loss ABCA3 LOC106660606 MIR3677 RNPS1 ABCA17P MIR4717 MIR940
nsv1052260 Chr.16:2074546 - 2629655 on Build GRCh38 Gain ATP6V0C TRAF7 MIR4516 E4F1 CCNF LOC729652 MIR6768 RNPS1 NTN3 CEMP1 MLST8 MIR3180-5 ABCA3 DNASE1L2 LOC105371049 LOC106660606 MIR3677 LOC652276 MIR4717 BRICD5 PGP SNHG19 MIR6767 SNORD60 MIR6511B1 PKD1 TBC1D24 MIR3178 TSC2 CASKIN1 ECI1 PDPK1 RAB26 AMDHD2 C16orf59 ABCA17P MIR1225 MIR940
nsv952902 Chr.16:2143400 - 2339999 on Build GRCh38 Deletion PGP TRAF7 SNHG19 SNORD60 E4F1 RNPS1 MLST8 ABCA3 DNASE1L2 CASKIN1 ECI1 RAB26 LOC106660606 MIR3677 MIR4717 BRICD5 MIR940
nsv571202 Chr.16:2278649 - 2289619 on Build GRCh38 Loss ABCA3

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