Results for the protein: Q13336

Results for the Protein: Q13336

4033779

6563

SLC14A1

NCBI, UniProt

UT1_HUMAN RecName: Full=Urea transporter 1; AltName: Full=Solute carrier family 14 member 1; AltName: Full=Urea transporter, erythrocyte

Known Diseases associated with this Protein:
JK-NULL VARIANT, FINNISH TYPE

1

9

1

4

5

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Default View:	Swiss-Prot Protein: Q13336 Identical to: NP_001139508, NP_056949 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_065466	Polymorphism	p.ASN74LYS	N/A
dbSNP	rs1058396	Polymorphism	p.ASP280ASN	N/A
dbSNP	rs2298720	Polymorphism	p.GLU44LYS	N/A
Swiss-Prot	VAR_065467	Polymorphism	p.GLY299GLU	N/A
dbSNP	rs2298719	Polymorphism	p.MET167VAL	N/A
Swiss-Prot	VAR_013752	Polymorphism	p.SER291PRO	N/A
Swiss-Prot	VAR_065468	Polymorphism	p.THR319MET	N/A
Swiss-Prot	VAR_051484	Polymorphism	p.TRP171ARG	N/A
dbSNP	rs113029149	Polymorphism	p.VAL76ILE	N/A
OMIM	613868.0004	Disease	p.SER235PRO	JK-NULL VARIANT, FINNISH TYPE

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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