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

Chr.16:2276771 on build GRCh38
Cytoband
16p13.3
Assay ID Hs00398036_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 32 - Exon 33
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 ABCA3 ARHGDIG GNG13 LOC729652 LOC105371045 RHBDF1 SNORA78 PRR35 AMDHD2 MPG CCDC154 CAPN15 RNF151 LOC105371047 MRPL28 NUBP2 MSRB1 MIR5587 PRSS29P NPRL3 EME2 FBXL16 MSLN TPSG1 LOC100287175 NDUFB10 LINC00235 PIGQ SNORD60 SNHG19 LOC105371049 RAB40C LMF1 MIR6859-4 STUB1 TSR3 MRPS34 HAGH RPL3L SNORA10 LOC107984876 WASIR2 RAB11FIP3 LOC101929280 RAB26 MIR3677 HBA2 MCRIP2 JMJD8 NOXO1 TPSAB1 RHBDL1 PDPK1 TBL3 HN1L MIR940 FAM173A TMEM204 PRR25 FLJ42627 TSC2 HBM MIR3180-5 MIR4717 DNASE1L2 PKD1 NME3 WDR90 DDX11L10 POLR3K SNRNP25 MIR662 IGFALS METTL26 ATP6V0C WDR24 PGP ZNF598 SNORA64 BRICD5 HS3ST6 MIR1225 LINC00254 CACNA1H MLST8 RHOT2 LUC7L TBC1D24 HBZ METRN FAM234A TRAF7 MIR3176 LOC106660606 AXIN1 MIR4516 LOC105371038 LOC105371184 E4F1 NTN3 MAPK8IP3 RPL23AP5 PTX4 CLCN7 C16orf91 CRAMP1 PDIA2 NTHL1 LMF1-AS1 LOC105371046 NME4 MEIOB DECR2 WFIKKN1 CCDC78 KCTD5 C16orf59 CCNF PRSS27 LOC107987233 SSTR5 HBA1 CEMP1 SSTR5-AS1 GNPTG LOC652276 ERVK13-1 MIR6511B1 IFT140 CHTF18 SOX8 UBE2I RGS11 MIR3177 CASKIN1 HBQ1 NHLRC4 MIR6767 NARFL SNHG9 ABCA17P BAIAP3 TMEM8A FAHD1 HAGHL RPUSD1 ECI1 TPSB2 TELO2 LOC100134368 MIR3178 SLC9A3R2 UNKL TPSD1 NPW C1QTNF8 SPSB3 RPS2 SYNGR3 MIR6768 GFER RNPS1
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss ABCA3 ZNF598 MIR3677 BRICD5 MIR1225 NOXO1 MLST8 MIR6511B1 CASKIN1 TBL3 MIR940 TRAF7 LOC106660606 MIR4516 E4F1 TSC2 SNORD60 MIR3180-5 MIR4717 DNASE1L2 PKD1 ECI1 SNHG19 LOC105371049 SLC9A3R2 NPW NTHL1 SYNGR3 PGP RAB26 GFER RNPS1
nsv457353 Chr.16:2255538 - 2365929 on Build GRCh38 Loss ABCA3 MIR3677 ABCA17P MIR4717 MIR940 LOC106660606 RNPS1
nsv1052260 Chr.16:2074546 - 2629655 on Build GRCh38 Gain ABCA3 MIR3677 LOC729652 BRICD5 CEMP1 MIR1225 MLST8 LOC652276 AMDHD2 MIR6511B1 TBC1D24 PDPK1 CASKIN1 MIR940 TRAF7 MIR6767 LOC106660606 MIR4516 E4F1 NTN3 TSC2 SNORD60 ABCA17P MIR3180-5 MIR4717 DNASE1L2 PKD1 ECI1 SNHG19 LOC105371049 MIR3178 ATP6V0C MIR6768 PGP C16orf59 CCNF RAB26 RNPS1
nsv952902 Chr.16:2143400 - 2339999 on Build GRCh38 Deletion ABCA3 E4F1 MIR3677 BRICD5 SNORD60 MIR4717 MLST8 DNASE1L2 ECI1 SNHG19 CASKIN1 MIR940 TRAF7 PGP RAB26 LOC106660606 RNPS1

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