| Type | Description |
|---|---|
| Definition | solute carrier family 24 member 1 |
| Date | Results | Publications |
|---|---|---|
| 2018-06-02 11:15:00 | We report the association of many previously unreported variants with retinal disease, as well as new disease phenotypes associated with known genes, including the first association of the SLC24A1 gene with retinitis pigmentosa | 27624628 |
| 2017-05-06 10:44:00 | The index patient and his affected brother carry a homozygous single-nucleotide variants (SNVs) in sodium-calcium, potassium exchanger (SLC24A1) (c.2401G > T). | 26822852 |
| 2010-10-30 11:01:00 | A mutation in SLC24A1 is implicated in autosomal-recessive congenital stationary night blindness. | 20850105 |
| Type | IDs |
|---|---|
| Synonymous | CSNB1D, HsT17412, NCKX, NCKX1, RODX |
| Gene |
UniProtKB-ID:
NCKX1_HUMAN,
F5H127_HUMAN,
B4DUG1_HUMAN,
B4E1W0_HUMAN,
F5H483_HUMAN
UniprotKB:
O60721,
F5H127,
B4DUG1,
B4E1W0,
F5H483
UniParc:
UPI000204A957,
UPI000002AF3D,
UPI000204A958,
UPI000013020C,
UPI0000DA58E0,
UPI00017A87DD,
UPI00017A7E80
EMBL:
BC117263,
AC027220,
AF062921,
AK300633,
AF062922,
AK304006,
AB014602,
AF026132,
AC011939,
BC143375
Ensembl:
ENSG00000074621
KO:
hsa:9187
|
| Nucleutide sequences |
EMBL-CDS:
AAC16732.1,
AAI43376.1,
BAA31677.2,
AAC77912.1,
AAI17264.1,
AAB97832.1,
BAG62323.1,
BAG64922.1
Ensembl_TRS:
ENST00000399033,
ENST00000339868,
ENST00000261892,
ENST00000546330,
ENST00000537259,
ENST00000544319
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000261892,
ENSP00000439190,
ENSP00000381991,
ENSP00000341837,
ENSP00000439693,
ENSP00000445163
RefSeq:
XP_005254835.1,
NP_001287962.1,
XP_011520522.1,
XP_011520528.1,
NP_001287960.1,
XP_011520523.1,
XP_024305871.1,
XP_011520524.1,
NP_001241669.1,
XP_005254838.1,
XP_024305872.1,
XP_006720831.1,
XP_024305873.1,
NP_001287961.1,
NP_004718.1,
XP_016878213.1,
XP_024305874.1,
XP_011520521.1,
XP_016878214.1
|
| Others |
UniRef100:
UniRef100_O60721,
UniRef100_F5H483,
UniRef100_B4DUG1,
UniRef100_F5H127,
UniRef100_B4E1W0
UniRef90:
UniRef90_B4DUG1,
UniRef90_O60721
UniRef50:
UniRef50_A0A1A6H5U7,
UniRef50_O60721
UniGene:
Hs.173092
CCDS:
CCDS45284.1,
CCDS73742.1,
CCDS73743.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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