Results for the protein: NP

Results for the Protein: NP_001119580

186910319

6559

SLC12A3

NCBI

solute carrier family 12 member 3 isoform 3 [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_001119580 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
AA_permease	pfam00324	6e-173	141	647
AA_permease_N	pfam08403	1.7e-30	44	120

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs1529927	Polymorphism	p.ALA264GLY	N/A
dbSNP	rs12708965	Polymorphism	p.ARG919CYS	N/A
dbSNP	rs11643718	Polymorphism	p.ARG904GLN	N/A
dbSNP	rs61746763	Polymorphism	p.ASN622SER	N/A
OMIM	600968.0008	Disease	p.ALA588VAL	GITELMAN SYNDROME
OMIM	600968.0005	Disease	p.ARG655HIS	GITELMAN SYNDROME
OMIM	600968.0013	Disease	p.ARG862HIS	GITELMAN SYNDROME
OMIM	600968.0006	Disease	p.ARG653LEU	GITELMAN SYNDROME
OMIM	600968.0003	Disease	p.ARG209TRP	GITELMAN SYNDROME
OMIM	600968.0002	Disease	p.CYS421ARG	GITELMAN SYNDROME
OMIM	600968.0011	Disease	p.GLY630VAL	GITELMAN SYNDROME
OMIM	600968.0012	Disease	p.LEU623PRO	GITELMAN SYNDROME
OMIM	600968.0001	Disease	p.LEU841PRO	GITELMAN SYNDROME
OMIM	600968.0009	Disease	p.PRO349LEU	GITELMAN SYNDROME
OMIM	600968.0013	Disease	p.THR163MET	GITELMAN SYNDROME

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