| Type | Description |
|---|---|
| Definition | solute carrier family 24 member 5 |
| Date | Results | Publications |
|---|---|---|
| 2020-04-18 12:44:00 | This study identifies two novel SLC24A5 frame-shift variants in two unrelated Chinese oculocutaneous albinism type 6 patients. | 31486119 |
| 2019-04-20 11:22:00 | NCKX5 is not a plasma membrane resident and is exclusively located in the trans Golgi network. | 29981211 |
| 2019-03-23 10:25:00 | The derived causal allele in SLC24A5, p.Ala111Thr, significantly lightens basal skin pigmentation in the KhoeSan and explains 8 to 15% of phenotypic variance in these populations. The frequency of this allele (33 to 53%) is far greater than expected from gene flow. We show that the allele was introduced into the KhoeSan only 2,000 y ago via a back-to-Africa migration and then experienced a selective sweep. | 30530665 |
| 2017-07-29 12:43:00 | both polymorphisms (rs1426654 and rs2470102) play an important role in the skin pigmentation diversity of South Asians | 27866970 |
| 2016-12-17 10:23:00 | Letter/Case Report: OCA6 mutation in 6 year old boy with oculocutaneous albinism. | 26686029 |
| Type | IDs |
|---|---|
| Synonymous | JSX, NCKX5, OCA6, SHEP4 |
| Gene |
UniProtKB-ID:
NCKX5_HUMAN
UniprotKB:
Q71RS6
UniParc:
UPI000156577B,
UPI0000242BC9
EMBL:
AC090526,
BC113630,
DQ665307,
BC113628,
BC073944,
AF348468,
BC143950,
DQ665306
Ensembl:
ENSG00000188467
KO:
hsa:283652
|
| Nucleutide sequences |
EMBL-CDS:
ABG66959.1,
AAI43951.1,
AAQ15116.1,
ABG66958.1,
AAI13631.1,
AAH73944.1,
AAI13629.1
Ensembl_TRS:
ENST00000341459,
ENST00000449382
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000389966,
ENSP00000341550
RefSeq:
XP_024305669.1,
XP_016877569.1,
XP_016877568.1,
NP_995322.1
|
| Others |
UniRef100:
UniRef100_Q71RS6
UniRef90:
UniRef90_Q71RS6
UniRef50:
UniRef50_Q71RS6
UniGene:
Hs.710240
CCDS:
CCDS10128.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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