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Results for the Protein: Q06495
730113

NPT2A_HUMAN RecName: Full=Sodium-dependent phosphate transport protein 2A; Short=Sodium-phosphate transport protein 2A; AltName: Full=Na(+)-dependent phosphate cotransporter 2A; AltName: Full=NaPi-3; AltName: Full=Sodium/phosphate cotransporter 2A; Short=Na(+)/Pi cotransporter 2A; Short=NaPi-2a; AltName: Full=Solute carrier family 34 member 1

Known Diseases associated with this Protein:
  NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1
  NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1 (NPHLOP1)
4
1
2
1
2
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Default View:

NptA - COG1283
Na_Pi_cotrans - pfam02690


Swiss-Prot Protein: Q06495
Identical to: NP_003043
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NptACOG12836.3e-0599603
Na_Pi_cotranspfam026901.3e-44113250
Na_Pi_cotranspfam026901.3e-22368504

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_024765Diseasep.ALA48PHENephrolithiasis/osteoporosis, hypophosphatemic, 1 (NPHLOP1)
dbSNPrs61753440 Polymorphismp.PRO75SERN/A
Swiss-ProtVAR_024766Diseasep.VAL147METNephrolithiasis/osteoporosis, hypophosphatemic, 1 (NPHLOP1)
OMIM182309.0001 Diseasep.ALA48PHENEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1
OMIM182309.0002 Diseasep.VAL147METNEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1



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