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

Chr.16:2281408 on build GRCh38
Cytoband
16p13.3
Assay ID Hs01144631_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 27 - Exon 27
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 MIR3677 NARFL IGFALS PTX4 HBA1 HAGH LOC105371049 MIR4717 AXIN1 CCDC154 E4F1 NOXO1 ABCA17P RHBDF1 LOC105371046 CRAMP1 LOC100134368 TMEM8A LUC7L LOC107987233 MIR6859-4 SSTR5-AS1 MLST8 BAIAP3 C16orf59 CACNA1H TRAF7 GNG13 AMDHD2 PDPK1 NUBP2 CAPN15 MIR3178 SOX8 POLR3K CEMP1 C16orf91 MIR6767 ARHGDIG RPUSD1 METTL26 NME4 LOC652276 MPG ABCA3 SNORA78 ZNF598 GNPTG CLCN7 CCDC78 HS3ST6 HBM TPSG1 LOC105371038 UBE2I MIR1225 SNORA10 NHLRC4 LOC105371184 MIR6511B1 WFIKKN1 MCRIP2 FAM234A SNORA64 EME2 RPL23AP5 MIR4516 WDR24 MIR6768 CASKIN1 SYNGR3 ERVK13-1 SNRNP25 RAB40C SNHG19 NTN3 NTHL1 MSLN LINC00235 MAPK8IP3 LOC105371047 LOC105371045 DNASE1L2 PKD1 MRPS34 RHOT2 RHBDL1 HBZ FBXL16 PRSS29P MIR3180-5 MIR5587 METRN ATP6V0C DDX11L10 LINC00254 SLC9A3R2 LMF1-AS1 TPSB2 TPSD1 PRSS27 MIR940 LOC101929280 TPSAB1 HBA2 SPSB3 HN1L FAHD1 LOC729652 NPW LOC100287175 NME3 WASIR2 SNORD60 RNPS1 RNF151 MIR3176 NPRL3 LOC106660606 PGP MEIOB PIGQ MIR3177 RGS11 HBQ1 HAGHL RAB26 TMEM204 STUB1 TSC2 JMJD8 UNKL PDIA2 FAM173A BRICD5 GFER CCNF RPS2 MSRB1 RAB11FIP3 WDR90 CHTF18 DECR2 MIR662 RPL3L TBC1D24 LOC107984876 KCTD5 TSR3 SNHG9 IFT140 NDUFB10 TBL3 ECI1 PRR35 TELO2 FLJ42627 PRR25 MRPL28 LMF1 SSTR5 C1QTNF8
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss MIR3180-5 MIR3677 RAB26 TSC2 BRICD5 MIR1225 SLC9A3R2 GFER LOC105371049 MIR4717 MIR6511B1 E4F1 NOXO1 MIR940 MLST8 MIR4516 TRAF7 TBL3 CASKIN1 NPW SYNGR3 ECI1 SNHG19 NTHL1 SNORD60 RNPS1 LOC106660606 DNASE1L2 PGP PKD1 ABCA3 ZNF598
nsv571201 Chr.16:2255538 - 2365929 on Build GRCh38 Loss MIR3677 MIR940 ABCA17P LOC106660606 ABCA3 MIR4717 RNPS1
nsv1052260 Chr.16:2074546 - 2629655 on Build GRCh38 Gain MIR3180-5 MIR3677 RAB26 TSC2 ATP6V0C BRICD5 MIR1225 CCNF LOC105371049 MIR4717 MIR6511B1 E4F1 MIR940 ABCA17P TBC1D24 MLST8 MIR4516 C16orf59 TRAF7 AMDHD2 PDPK1 MIR6768 MIR3178 LOC729652 CASKIN1 ECI1 SNHG19 CEMP1 NTN3 MIR6767 SNORD60 RNPS1 LOC652276 LOC106660606 DNASE1L2 PGP PKD1 ABCA3
nsv952902 Chr.16:2143400 - 2339999 on Build GRCh38 Deletion MIR3677 TRAF7 RAB26 CASKIN1 BRICD5 ECI1 SNHG19 MIR4717 SNORD60 RNPS1 E4F1 MIR940 LOC106660606 DNASE1L2 PGP ABCA3 MLST8
nsv571202 Chr.16:2278649 - 2289619 on Build GRCh38 Loss ABCA3

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