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Results for the Protein: Q9NP91
46397768

S6A20_HUMAN RecName: Full=Sodium- and chloride-dependent transporter XTRP3; AltName: Full=Sodium/imino-acid transporter 1; AltName: Full=Solute carrier family 6 member 20; AltName: Full=Transporter rB21A homolog

Known Diseases associated with this Protein:
  HYPERGLYCINURIA
  IMINOGLYCINURIA, DIGENIC, INCLUDED
1
2
1
1
1
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Default View:

COG0733 - COG0733
SNF - pfam00209


Swiss-Prot Protein: Q9NP91
Identical to: NP_064593
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG0733COG07331.1e-171531
SNFpfam002097.1e-2115581

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2271615 Polymorphismp.ALA9GLYN/A
Swiss-ProtVAR_052068Polymorphismp.THR199METN/A
OMIM605616.0001 Diseasep.THR199METHYPERGLYCINURIA||IMINOGLYCINURIA, DIGENIC, INCLUDED



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