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Results for the Protein: NP_852470
31657144

inosine triphosphate pyrophosphatase isoform b [Homo sapiens]

Known Diseases associated with this Protein:
  INOSINE TRIPHOSPHATASE DEFICIENCY
1
2
1
2
0
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Default View:

COG0127 - COG0127
Maf_Ham1 - cd00985
Ham1p_like - pfam01725
HAM1 - cd00515


RefSeq Protein: NP_852470
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG0127COG01273.7e-401176
Maf_Ham1cd009853.3e-363171
HAM1cd005155.3e-705171
Ham1p_likepfam017257.2e-575172

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs111069069 Polymorphismp.PRO15SERN/A
dbSNPrs1127354 Polymorphismp.PRO15THRN/A
OMIM147520.0001 Diseasep.PRO15THRINOSINE TRIPHOSPHATASE DEFICIENCY



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