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

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