| Type | Description |
|---|---|
| Definition | solute carrier family 12 member 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-06-13 10:25:00 | novel missense mutation within the SLC12A1 gene, causing a severe form of antenatal Bartter syndrome type I in Israeli Bedouins | 30977917 |
| 2020-05-23 10:47:00 | our results suggest that aberrant exon skipping is one previously unrecognized mechanism by which an exonic variant in SLC12A1 can lead to Bartter syndrome type 1. | 30790175 |
| 2018-08-25 10:43:00 | We replicated the methods in a previous study to detect rare and potentially loss-of-function variants in SLC12A3, SLC12A1, and KCNJ1 reducing blood pressure in variant carriers as compared with noncarriers using whole exome sequencing data. Our study confirmed that SLC12A3, SLC12A1, and KCNJ1 are indeed genes protective of hypertension in the general population. | 30113482 |
| 2017-12-23 12:07:00 | an association between primary hyperparathyroidism and loss of function mutation of SLC12A1, which may result in an aberrant threshold of the calcium sensing receptor at the level of the kidney, is reported. | 28095294 |
| 2017-04-01 12:48:00 | A novel variant in the SLC12A1 gene, c.1614T>A, which predicts a change from a tyrosine codon to a stop codon (p.Tyr538Ter) was found in two families with Bartter syndrome type I. | 27748541 |
| Type | IDs |
|---|---|
| Synonymous | BSC1, NKCC2 |
| Gene |
UniProtKB-ID:
S12A1_HUMAN,
B4DPF4_HUMAN,
Q8IUN5_HUMAN
UniprotKB:
Q13621,
B4DPF4,
Q8IUN5
UniParc:
UPI0000229BFB,
UPI00017A78F5,
UPI000013C794,
UPI000007473C
EMBL:
EF559316,
AC066612,
U58130,
AK298312,
AC023355,
BC040138
Ensembl:
ENSG00000074803
KO:
hsa:6557
|
| Nucleutide sequences |
EMBL-CDS:
ABU69043.2,
AAB07364.1,
BAG60566.1,
AAH40138.1
Ensembl_TRS:
ENST00000396577,
ENST00000380993,
ENST00000647232,
ENST00000647546,
ENST00000330289
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000370381,
ENSP00000495332,
ENSP00000379822,
ENSP00000493875,
ENSP00000331550
RefSeq:
NP_000329.2,
NP_001371065.1,
NP_001171761.1
|
| Others |
UniRef100:
UniRef100_Q13621,
UniRef100_B4DPF4,
UniRef100_Q8IUN5
UniRef90:
UniRef90_B4DPF4,
UniRef90_Q13621,
UniRef90_Q8IUN5
UniRef50:
UniRef50_P55016,
UniRef50_Q8IUN5,
UniRef50_A0A5F8H1I5
UniGene:
Hs.123116,
Hs.605373
CCDS:
CCDS10129.2,
CCDS53940.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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