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          • Home
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          • › Hs00283470_cn
          See other DHDH CNV Assays ›
          Gene Symbol
          DHDH
          Assay Reference Genome
          Location

          Chr.19:48936177 on build GRCh38
          Cytoband
          Assay ID Hs00283470_cn
          Size
          Availability Made To Order
          Catalog # 4400291
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          • Genomic Map
          • Assay Details
          • More Information

          Genomic Map

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          Assay Details

          Target Gene Details

          Entrez Gene ID:

          27294

          Gene Name:

          dihydrodiol dehydrogenase

          Gene Aliases:

          2DD, HUM2DD

          Location:

          Chr.19:48932795-48944969 on Build GRCh38

          Assay Gene Location:

          Overlaps Exon 4 - Intron 4
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          DHDH NM_014475.4 NP_055290.1
          XM_005258748.5 XP_005258805.1
          XM_017026598.2 XP_016882087.1
          XM_047438617.1 XP_047294573.1
          AB021933.1 BAA83490.1
          BC032730.1 AAH32730.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2025-12-01, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          nsv518164 Chr.19:48921668 - 48944456 on Build GRCh38 Loss NUCB1 DHDH
          nsv6518154 Chr.19:48929779 - 48936959 on Build GRCh38 Deletion DHDH
          nsv833857 Chr.19:48914476 - 49146320 on Build GRCh38 Loss LIN7B CGB5 SNAR-G1 PPFIA3 NUCB1 NTF4 SAXO3 C19orf73 CGB1 RUVBL2 SNRNP70 NUCB1-AS1 KCNA7 FTL CGB2 DHDH MIR6798 CGB7 GYS1 CGB8 LHB SNAR-G2 CGB3 BAX
          nsv5524247 Chr.19:48929728 - 48937034 on Build GRCh38 Deletion DHDH
          nsv5935755 Chr.19:48929835 - 48936990 on Build GRCh38 Deletion DHDH
          nsv3116944 Chr.19:48931537 - 48936337 on Build GRCh38 Deletion DHDH
          nsv6518321 Chr.19:48924480 - 48943962 on Build GRCh38 Deletion DHDH
          nsv6059241 Chr.19:48929883 - 48936838 on Build GRCh38 Deletion DHDH
          esv3644609 Chr.19:48935435 - 48937743 on Build GRCh38 Loss DHDH
          nsv5527553 Chr.19:48935497 - 48937808 on Build GRCh38 Deletion DHDH
          nsv4263719 Chr.19:48935667 - 48936594 on Build GRCh38 Duplication DHDH
          nsv9739 Chr.19:47901840 - 50143063 on Build GRCh38 Gain+Loss LIN7B KASH5 HSD17B14 SLC17A7 MIR4751 RCN3 KCNA7 FTL LOC105372430 GRWD1 FAM83E TBC1D17 NUCB1 ADM5 C19orf73 LOC105447645 SNAR-A8 PRMT1 SNAR-A9 SYNGR4 SULT2B1 SEC1P TULP2 GYS1 SNAR-A2 MIR5088 ZNF473 IZUMO1 RASIP1 ALDH16A1 SNAR-A13 PRR12 NTN5 FUZ MIR150 MIR6799 SNAR-G1 BCAT2 VRK3 PTOV1-AS2 RUVBL2 GFY MAMSTR PNKP DHDH SNAR-A10 RRAS RPL18 SNAR-A11 SIGLEC16 LOC101928295 SNAR-G2 BAX SNAR-C2 KCNJ14 PTH2 NTF4 MIR4324 SNORD34 CD37 SPHK2 SNORD33 AP2A1 DBP MIR6798 SNAR-C4 TEAD2 SNAR-A3 SNAR-A12 SNORD35A IL4I1 PPP1R15A CPT1C LMTK3 RPL13A PIH1D1 SLC6A16 SNAR-A7 SNAR-A14 ZSWIM9 TMEM143 ELSPBP1 MIR4750 CGB2 NOSIP DKKL1 FGF21 PTOV1-AS1 CGB7 CARD8 SNAR-C1 BCL2L12 SNAR-A1 PTOV1 SAXO3 IRF3 GRIN2D CGB1 TSKS SNAR-A5 CARD8-AS1 PLEKHA4 KDELR1 SNORD35B RPS11 SNAR-C5 LOC105372435 PPFIA3 EMP3 CYTH2 MIR4749 PLA2G4C MIR6800 SNORD32A SNRNP70 NUCB1-AS1 FLT3LG SNAR-A6 HRC PLA2G4C-AS1 SIGLEC11 SNAR-C3 CGB8 SPACA4 LHB NUP62 FUT1 CGB5 FUT2 SNAR-D LIG1 CABP5 SNAR-B1 PRRG2 ZNF473CR ZNF114 AKT1S1 SNAR-B2 ODAD1 FCGRT ATF5 MED25 CA11 SNAR-A4 SCAF1 BSPH1 CGB3 TRPM4
          nsv6523678 Chr.19:48930100 - 48957529 on Build GRCh38 Duplication DHDH BAX
          nsv6523966 Chr.19:48934692 - 48940947 on Build GRCh38 Deletion DHDH
          nsv521890 Chr.19:48935106 - 48952897 on Build GRCh38 Gain DHDH
          nsv5939896 Chr.19:48935690 - 48959222 on Build GRCh38 Duplication DHDH BAX
          nsv3230349 Chr.19:47957693 - 50112931 on Build GRCh38 Deletion LIN7B KASH5 HSD17B14 SLC17A7 MIR4751 RCN3 KCNA7 FTL LOC105372430 GRWD1 FAM83E TBC1D17 NUCB1 ADM5 C19orf73 LOC105447645 SNAR-A8 PRMT1 SYNGR4 SULT2B1 SEC1P TULP2 GYS1 MIR5088 ZNF473 IZUMO1 RASIP1 ALDH16A1 PRR12 NTN5 FUZ MIR150 MIR6799 SNAR-G1 BCAT2 VRK3 PTOV1-AS2 RUVBL2 GFY MAMSTR PNKP DHDH RRAS RPL18 SIGLEC16 LOC101928295 SNAR-G2 BAX KCNJ14 PTH2 NTF4 MIR4324 SNORD34 CD37 SPHK2 SNORD33 AP2A1 DBP MIR6798 TEAD2 SNORD35A IL4I1 PPP1R15A CPT1C LMTK3 RPL13A PIH1D1 SLC6A16 SNAR-A7 SNAR-A14 ZSWIM9 TMEM143 ELSPBP1 MIR4750 CGB2 NOSIP DKKL1 FGF21 PTOV1-AS1 CGB7 CARD8 BCL2L12 PTOV1 SAXO3 IRF3 GRIN2D CGB1 TSKS SNAR-A5 CARD8-AS1 PLEKHA4 KDELR1 SNORD35B RPS11 LOC105372435 PPFIA3 EMP3 CYTH2 MIR4749 PLA2G4C MIR6800 SNORD32A SNRNP70 NUCB1-AS1 FLT3LG SNAR-A6 HRC PLA2G4C-AS1 SIGLEC11 CGB8 SPACA4 LHB NUP62 FUT1 CGB5 FUT2 LIG1 CABP5 PRRG2 ZNF473CR ZNF114 AKT1S1 ODAD1 FCGRT ATF5 MED25 CA11 SNAR-A4 SCAF1 BSPH1 CGB3 TRPM4
          nsv6058795 Chr.19:48935540 - 48959076 on Build GRCh38 Duplication DHDH BAX
          nsv833856 Chr.19:48847866 - 48986483 on Build GRCh38 Loss NUCB1 DHDH TULP2 GYS1 NUCB1-AS1 PLEKHA4 PPP1R15A BAX FTL
          nsv833855 Chr.19:48750098 - 48949781 on Build GRCh38 Loss NUCB1 DHDH BCAT2 FGF21 TULP2 NUCB1-AS1 HSD17B14 PLEKHA4 PPP1R15A FUT1

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          More Information


          Set Membership:

          Intragenic Non-exonic DGV Variation

          Gene Ontology Categories:

          Function(s) Process(es)

          D-xylose catabolic process
          nucleotide binding
          oxidoreductase activity
          trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity
          D-xylose 1-dehydrogenase (NADP+) activity

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