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

Chr.16:2285563 on build GRCh38
Cytoband
16p13.3
Assay ID Hs02201896_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 Exon 23
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
ABCA3 NM_001089.2 23 4074 NP_001080.2
AB070929.1 20 3404 BAB86781.1
AB210044.1 22 3900 BAE06126.1
BC140895.1 20 3399
BC146866.1 20 3399
BC151840.1 23 4056
U78735.1 23 3921 AAC50967.1
X97187.1 22 3709 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 C16orf59 JMJD8 LUC7L WFIKKN1 LOC101929280 MIR6511B1 LOC105371047 MAPK8IP3 ZNF598 DDX11L10 RAB11FIP3 TSC2 HN1L TPSB2 LMF1-AS1 MEIOB RHOT2 LOC107987233 LOC100134368 NPRL3 MIR662 CHTF18 TMEM204 MIR3177 SSTR5-AS1 CEMP1 RHBDL1 MLST8 IFT140 PIGQ WDR24 E4F1 LOC105371184 MIR4717 TPSAB1 HBM PGP RPL3L TSR3 LOC105371046 AMDHD2 NPW LOC729652 RGS11 CAPN15 UBE2I FLJ42627 MCRIP2 WASIR2 MIR3677 KCTD5 FAHD1 GNG13 DNASE1L2 NDUFB10 LMF1 NARFL NME3 HS3ST6 NTHL1 TBC1D24 LINC00235 HAGH LINC00254 NME4 RNPS1 C16orf91 LOC100287175 HBA1 LOC652276 LOC106660606 MIR3176 RAB40C ABCA3 PRSS29P RPS2 MIR4516 WDR90 RHBDF1 ABCA17P PKD1 MIR3178 AXIN1 BAIAP3 POLR3K CASKIN1 RPUSD1 STUB1 SNORD60 HAGHL FBXL16 ARHGDIG LOC105371038 SNRNP25 TRAF7 METRN DECR2 FAM173A CRAMP1 TMEM8A ERVK13-1 MSLN MPG NUBP2 SNORA10 NHLRC4 SSTR5 PRR25 MIR5587 GFER SNHG9 LOC105371045 RNF151 HBA2 FAM234A PRR35 CLCN7 MIR6859-4 RPL23AP5 RAB26 MIR6767 MSRB1 ATP6V0C C1QTNF8 MIR940 SNORA64 PTX4 GNPTG MIR3180-5 PDIA2 UNKL LOC107984876 SNORA78 CCDC78 SOX8 HBQ1 MRPS34 EME2 ECI1 METTL26 HBZ NOXO1 MIR1225 NTN3 SPSB3 LOC105371049 MRPL28 TBL3 SNHG19 CCNF BRICD5 PDPK1 CACNA1H CCDC154 MIR6768 TPSD1 IGFALS SYNGR3 SLC9A3R2 TELO2 PRSS27
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss PKD1 NPW CASKIN1 RAB26 MIR6511B1 SNORD60 TRAF7 MIR940 MIR3677 ZNF598 MIR3180-5 DNASE1L2 TSC2 ECI1 NTHL1 NOXO1 MIR1225 LOC105371049 MLST8 GFER RNPS1 TBL3 SNHG19 LOC106660606 E4F1 BRICD5 MIR4717 PGP ABCA3 MIR4516 SYNGR3 SLC9A3R2
nsv457353 Chr.16:2255538 - 2365929 on Build GRCh38 Loss LOC106660606 MIR4717 ABCA3 RNPS1 ABCA17P MIR940 MIR3677
nsv1052260 Chr.16:2074546 - 2629655 on Build GRCh38 Gain PKD1 C16orf59 LOC729652 MIR3178 CASKIN1 RAB26 MIR6511B1 SNORD60 MIR6767 ATP6V0C TRAF7 MIR940 MIR3677 MIR3180-5 DNASE1L2 TSC2 ECI1 TBC1D24 MIR1225 NTN3 CEMP1 LOC105371049 MLST8 RNPS1 SNHG19 LOC652276 LOC106660606 E4F1 CCNF BRICD5 MIR4717 PDPK1 PGP MIR6768 ABCA3 MIR4516 AMDHD2 ABCA17P
nsv952902 Chr.16:2143400 - 2339999 on Build GRCh38 Deletion ECI1 CASKIN1 RAB26 MLST8 SNORD60 RNPS1 TRAF7 MIR940 MIR3677 SNHG19 LOC106660606 E4F1 BRICD5 MIR4717 PGP DNASE1L2 ABCA3
nsv571202 Chr.16:2278649 - 2289619 on Build GRCh38 Loss ABCA3

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