Nibrin (Nijmegen Breakage Syndrome, NBS1)[Nibrin]

• Catalog number
  MBS601230
• Price
  Please ask
• Size
  NA

• Products_type
  Antibody
• Reactivity
  Human

• Gene target
  Nibrin   Nijmegen   Breakage   Syndrome   NBS1   [Nibrin]  
• Gene symbol
  NLRP2, NBN
• Short name
  Nibrin (Nijmegen Breakage Syndrome, NBS1)[Nibrin]
• Host
  Mouse
• Alternative name
  Nibrin (Nijmegen Breakage Syndrome, NBS1)[Nibrin]
• Disease
  syndrome

Gene info

• Identity
  HGNC:22948
• Gene
  NLRP2
• Long gene name
  NLR family pyrin domain containing 2
• Synonyms gene
  • NALP2
• Synonyms gene name
  • NACHT, leucine rich repeat and PYD containing 2
• Synonyms
  • FLJ20510
  • PYPAF2
  • NBS1
  • PAN1
  • CLR19.9
• Synonyms name
  • nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2
• GenBank acession
  • AK000517
• Locus
  19q13.42
• Discovery year
  2003-10-28
• Entrez gene record
  55655
• Pubmed identfication
  • 12563287
  • 11270363
• RefSeq identity
  • NM_017852
• Classification
  • Pyrin domain containing
  • NLR family
• VEGA ID
  OTTHUMG00000167763

Gene info

• Identity
  HGNC:7652
• Gene
  NBN
• Long gene name
  nibrin
• Synonyms gene
  • NBS
  • NBS1
• Synonyms gene name
  • Nijmegen breakage syndrome 1 (nibrin)
• Synonyms
  • ATV
  • AT-V2
  • AT-V1
• GenBank acession
  • AF058696
• Locus
  8q21.3
• Discovery year
  1997-11-28
• Entrez gene record
  4683
• Pubmed identfication
  • 9590181
  • 9590180
• RefSeq identity
  • NM_001024688
• Classification
  • MRN complex
  • BRCA1 C complex
• VEGA ID
  OTTHUMG00000153546
• Locus Specific Databases
  • Global Variome shared LOVD
  • LRG_158

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