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

Chr.16:2284808 on build GRCh38
Cytoband
16p13.3
Assay ID Hs00228860_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 24 - Exon 24
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 PTX4 MIR662 RAB26 HAGHL NARFL LOC105371038 ARHGDIG LOC106660606 TSC2 ERVK13-1 CCNF PDPK1 TPSG1 NHLRC4 MIR4717 BRICD5 GNPTG SLC9A3R2 TPSB2 LOC100134368 RHBDF1 NOXO1 CEMP1 NPW MRPS34 HBZ WFIKKN1 TPSAB1 TPSD1 DECR2 CLCN7 ZNF598 IGFALS CCDC78 MIR3176 ECI1 CACNA1H LUC7L LOC101929280 BAIAP3 RAB11FIP3 PRR35 HS3ST6 MIR6768 AXIN1 MRPL28 LOC105371046 C1QTNF8 WDR90 PRR25 RPUSD1 MPG CCDC154 FAM234A POLR3K JMJD8 FLJ42627 DNASE1L2 MIR3177 EME2 CHTF18 RGS11 TSR3 PGP FAHD1 KCTD5 TMEM8A SPSB3 RHOT2 WDR24 LOC105371045 NPRL3 WASIR2 MAPK8IP3 PRSS27 ATP6V0C E4F1 LOC107984876 RPL23AP5 NME3 NUBP2 MIR6767 MIR6859-4 CAPN15 TRAF7 AMDHD2 GNG13 HBM PRSS29P SNORA10 SNRNP25 SSTR5 SNHG9 MIR3677 PDIA2 MIR3178 HBA1 RHBDL1 LOC652276 MEIOB MIR940 SNORD60 LOC729652 HAGH LINC00235 IFT140 METTL26 LOC107987233 SYNGR3 STUB1 HBQ1 MIR5587 METRN NTHL1 SNORA64 TMEM204 FBXL16 LOC105371047 RPL3L TBL3 LMF1-AS1 NTN3 MCRIP2 RNF151 PIGQ ABCA3 DDX11L10 LOC105371184 TELO2 TBC1D24 LOC100287175 SNHG19 UBE2I SNORA78 LOC105371049 FAM173A NME4 GFER PKD1 MSRB1 CASKIN1 MIR3180-5 HBA2 CRAMP1 MIR1225 C16orf59 HN1L LMF1 MIR6511B1 MSLN UNKL RNPS1 C16orf91 SSTR5-AS1 SOX8 LINC00254 RPS2 RAB40C NDUFB10 MIR4516 MLST8 ABCA17P
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss RAB26 E4F1 LOC106660606 ABCA3 TSC2 TRAF7 MIR3677 SNHG19 MIR4717 LOC105371049 BRICD5 MIR940 GFER PKD1 SLC9A3R2 CASKIN1 DNASE1L2 SNORD60 MIR3180-5 NOXO1 NPW MIR1225 MIR6511B1 SYNGR3 PGP ZNF598 RNPS1 NTHL1 ECI1 MIR4516 MLST8 TBL3
nsv457353 Chr.16:2255538 - 2365929 on Build GRCh38 Loss RNPS1 MIR3677 MIR4717 MIR940 LOC106660606 ABCA3 ABCA17P
nsv1052260 Chr.16:2074546 - 2629655 on Build GRCh38 Gain RAB26 NTN3 MIR6768 ATP6V0C E4F1 LOC106660606 ABCA3 TSC2 MIR6767 TRAF7 AMDHD2 TBC1D24 CCNF PDPK1 MIR3677 SNHG19 MIR4717 LOC105371049 BRICD5 MIR3178 LOC652276 MIR940 PKD1 CASKIN1 DNASE1L2 SNORD60 LOC729652 MIR3180-5 CEMP1 MIR1225 C16orf59 MIR6511B1 PGP RNPS1 ECI1 MIR4516 MLST8 ABCA17P
nsv952902 Chr.16:2143400 - 2339999 on Build GRCh38 Deletion DNASE1L2 SNORD60 RAB26 E4F1 LOC106660606 ABCA3 TRAF7 PGP RNPS1 MIR3677 SNHG19 MIR4717 ECI1 BRICD5 MIR940 MLST8 CASKIN1
nsv571202 Chr.16:2278649 - 2289619 on Build GRCh38 Loss ABCA3

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