Assay Details
Target Gene Details
Entrez Gene ID: | 4913 |
Gene Name: | nth-like DNA glycosylase 1 |
Gene Aliases: |
FAP3, NTH1, OCTS3, hNTH1 |
Location: |
Chr.16:2039815-2047872 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NTHL1 | NM_001318193.1 | 2 | 321 | NP_001305122.1 |
NM_001318194.1 | NP_001305123.1 | |||
NM_002528.6 | 2 | 321 | NP_002519.1 | |
XM_017023253.1 | 2 | 324 | XP_016878742.1 | |
AB001575.1 | 2 | 285 | BAA19413.1 | |
BC000391.2 | 2 | 278 | AAH00391.2 | |
BC003014.1 | 2 | 278 | AAH03014.1 | |
BE900738.1 | 2 | 203 | ||
BG468617.1 | ||||
HY057336.1 | 2 | 298 | ||
HY094895.1 | 2 | 324 | ||
U79718.1 | 2 | 318 | AAB41534.1 | |
U81285.1 | 2 | 283 | AAC51136.1 | |
Y09687.1 | 2 | 275 | CAA70865.1 |
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 | SNRNP25 CRAMP1 DDX11L10 POLR3K HBM RHBDF1 TPSB2 MIR3178 HAGHL TELO2 NME3 TBC1D24 RAB40C MIR3177 LOC107984876 RPUSD1 ZNF598 SSTR5-AS1 HS3ST6 MEIOB TPSD1 PRR35 C16orf59 ARHGDIG METRN ABCA17P IGFALS TSR3 PIGQ TPSAB1 LOC107987233 FAM234A BAIAP3 PRSS27 LMF1-AS1 LOC106660606 EME2 MIR4516 NUBP2 CEMP1 SNORA10 MIR662 MRPL28 LOC105371047 NME4 PDIA2 TMEM8A AXIN1 NARFL JMJD8 GFER FLJ42627 LOC101929280 LUC7L SYNGR3 DNASE1L2 ERVK13-1 RNF151 WFIKKN1 E4F1 NOXO1 C1QTNF8 NHLRC4 NDUFB10 NPW PRSS29P LMF1 CCDC154 SNORD60 ECI1 LOC105371184 LOC105371045 CCDC78 MPG TMEM204 RPL23AP5 MLST8 UBE2I MIR6767 RPL3L LOC105371038 HAGH IFT140 SSTR5 SNHG9 PRR25 NTHL1 C16orf91 MAPK8IP3 MIR6768 SNORA78 ATP6V0C MIR4717 SNORA64 LOC100134368 KCTD5 NTN3 MCRIP2 MIR5587 TPSG1 LOC105371046 METTL26 MSRB1 NPRL3 FBXL16 PGP HBQ1 SNHG19 MSLN LOC652276 AMDHD2 TBL3 UNKL GNG13 LOC100287175 ABCA3 RAB11FIP3 MIR3180-5 CAPN15 CHTF18 CASKIN1 RHBDL1 RPS2 MIR3176 RHOT2 LOC729652 TRAF7 DECR2 RNPS1 WDR90 RGS11 GNPTG FAHD1 PKD1 MIR3677 WASIR2 HN1L SLC9A3R2 RAB26 LOC105371049 SPSB3 FAM173A HBA1 SOX8 MIR1225 TSC2 MIR6859-4 HBA2 HBZ CACNA1H MRPS34 PDPK1 BRICD5 LINC00254 CCNF LINC00235 STUB1 CLCN7 WDR24 MIR6511B1 MIR940 PTX4 |
nsv471072 | Chr.16:1971892 - 2317508 on Build GRCh38 | Loss | RNPS1 NTHL1 PKD1 GFER MIR4717 MIR3677 SYNGR3 DNASE1L2 SLC9A3R2 E4F1 NOXO1 RAB26 LOC105371049 ZNF598 PGP MIR1225 SNHG19 TSC2 NPW TBL3 SNORD60 ABCA3 ECI1 MIR3180-5 BRICD5 CASKIN1 MLST8 LOC106660606 MIR4516 MIR6511B1 MIR940 TRAF7 |
nsv952901 | Chr.16:1888800 - 2135899 on Build GRCh38 | Deletion | TSC2 NPW SNHG9 NTHL1 TBL3 SNORA78 PKD1 GFER SYNGR3 SNORA64 RNF151 SLC9A3R2 NOXO1 LOC105371049 RPS2 MIR4516 NDUFB10 MIR6511B1 ZNF598 MSRB1 SNORA10 RPL3L MIR1225 HS3ST6 |
nsv1160329 | Chr.16:1961727 - 2128574 on Build GRCh38 | Deletion | TSC2 NPW SNHG9 NTHL1 TBL3 SNORA78 PKD1 GFER SYNGR3 SNORA64 RNF151 SLC9A3R2 NOXO1 LOC105371049 RPS2 NDUFB10 MIR6511B1 ZNF598 SNORA10 MIR1225 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |