Results for the protein: NP

Results for the Protein: NP_001119579

186910317

6559

SLC12A3

NCBI

solute carrier family 12 member 3 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
GITELMAN SYNDROME

11

4

11

4

0

Tips:

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Default View: AA_permease_N - pfam08403 PotE - COG0531 AA_permease - pfam00324	RefSeq Protein: NP_001119579 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
AA_permease	pfam00324	6e-173	140	646
AA_permease_N	pfam08403	8.7e-30	44	119

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs1529927	Polymorphism	p.ALA263GLY	N/A
dbSNP	rs12708965	Polymorphism	p.ARG927CYS	N/A
dbSNP	rs11643718	Polymorphism	p.ARG912GLN	N/A
dbSNP	rs61746763	Polymorphism	p.ASN621SER	N/A
OMIM	600968.0008	Disease	p.ALA587VAL	GITELMAN SYNDROME
OMIM	600968.0005	Disease	p.ARG654HIS	GITELMAN SYNDROME
OMIM	600968.0013	Disease	p.ARG870HIS	GITELMAN SYNDROME
OMIM	600968.0006	Disease	p.ARG652LEU	GITELMAN SYNDROME
OMIM	600968.0003	Disease	p.ARG208TRP	GITELMAN SYNDROME
OMIM	600968.0002	Disease	p.CYS420ARG	GITELMAN SYNDROME
OMIM	600968.0011	Disease	p.GLY629VAL	GITELMAN SYNDROME
OMIM	600968.0012	Disease	p.LEU622PRO	GITELMAN SYNDROME
OMIM	600968.0001	Disease	p.LEU849PRO	GITELMAN SYNDROME
OMIM	600968.0009	Disease	p.PRO348LEU	GITELMAN SYNDROME
OMIM	600968.0013	Disease	p.THR162MET	GITELMAN SYNDROME

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