DKC1, ID (DKC1, NOLA4, H/ACA ribonucleoprotein complex subunit 4, CBF5 homolog, Dyskerin, Nopp140-associated protein of 57kD, Nucleolar protein NAP57, Nucleolar protein family A member 4, snoRNP protein DKC1)

• Catalog number
  MBS6008763
• Price
  Please ask
• Size
  0,2 mL

• Other size
  please contact us to order other different size

• Gene target
  DKC1   DKC1   NOLA4   H/ACA   ribonucleoprotein   complex   subunit   CBF5   homolog   Dyskerin   Nopp140-associated   protein   57kD   Nucleolar   protein   NAP57   Nucleolar   protein   family   member   snoRNP   protein   DKC1  
• Gene symbol
  DKC1, TRC-ACA1-1
• Short name
  DKC1, ID (DKC1, NOLA4, H/ACA ribonucleoprotein complex subunit 4, CBF5 homolog, Dyskerin, Nopp140-associated protein of 57kD, Nucleolar protein NAP57, Nucleolar protein family A member 4, snoRNP protein DKC1)
• Alternative name
  DKC1, ID (DKC1, NOLA4, H/ACA ribonucleoprotein aggregate functionnal sequence 4, CBF5 homolog, Dyskerin, Nopp140-associated protein on 57kD, Nucleolar protein NAP57, Nucleolar protein family A member 4, snoRNP protein DKC1)

Gene info

• Identity
  HGNC:2890
• Gene
  DKC1
• Long gene name
  dyskerin pseudouridine synthase 1
• Synonyms gene
  • DKC
• Synonyms gene name
  • dyskeratosis congenita 1, dyskerin
• Synonyms
  • XAP101
  • dyskerin
  • NAP57
  • NOLA4
  • Cbf5
• Synonyms name
  • H/ACA ribonucleoprotein complex subunit 4
• GenBank acession
  • AJ224481
• Locus
  Xq28
• Discovery year
  2001-06-22
• Entrez gene record
  1736
• Pubmed identfication
  • 9590285
  • 9888995
• RefSeq identity
  • NM_001363
• Classification
  • Small nucleolar RNA protein coding host genes
  • Pseudouridine synthases
  • MicroRNA protein coding host genes
  • H/ACA ribonucleoprotein complex
• VEGA ID
  OTTHUMG00000024242
• Locus Specific Databases
  • DKC1base: Mutation registry for Hoyeraal-Hreidarsson syndrome
  • Global Variome shared LOVD
  • LRG_55

Gene info

• Identity
  HGNC:35083
• Gene
  TRC-ACA1-1
• Long gene name
  tRNA-Cys (anticodon ACA) 1-1
• Synonyms gene
  • TRNAC32P
• Synonyms gene name
  • transfer RNA cysteine 32 (anticodon ACA) pseudogene
  • transfer RNA-Cys (ACA) 1-1
• Synonyms
  • tRNA-Cys-ACA-1-1
• GenBank acession
  • HG983684
• Locus
  5q33.1
• Discovery year
  2008-08-29
• Entrez gene record
  100189508
• RefSeq identity
  • NG_008566
• Classification
  • Cytoplasmic transfer RNA pseudogenes

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