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Results for the Protein: NP_476515
17136080

peroxisomal biogenesis factor 16 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER)
  PEROXISOME BIOGENESIS DISORDER 8B
2
2
2
2
0
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Default View:

Pex16 - pfam08610


RefSeq Protein: NP_476515
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Pex16pfam086107.3e-1367321

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs79435202 Polymorphismp.HIS345PRON/A
dbSNPrs35214605 Polymorphismp.VAL254LEUN/A
OMIM603360.0001 Diseasep.ARG176TERPEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER)
OMIM603360.0004 Diseasep.TYR331CYSPEROXISOME BIOGENESIS DISORDER 8B



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