| SG003565 | |||||||||||||||||
| CTNS | |||||||||||||||||
| CTNS-LSB, PQLC4 | |||||||||||||||||
| Homo sapiens | |||||||||||||||||
| 9606 | |||||||||||||||||
| ENSG00000040531 | |||||||||||||||||
| ENSP00000458457 | |||||||||||||||||
cystinosin, lysosomal cystine transporter [Homo sapiens (human)] | |||||||||||||||||
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Nonfunctional gene(KO mice without reproductive phenotype) |
| - | |
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ReactomeID: R-HSA-5223345 Miscellaneous transport and binding events | |
| Cystinosis nephropathic type (ctns) | |
| 606272 | |
| Expressed highest in testis | |
| Expressed highest in sperm | |
| View detail | |
| View detail | |
| Isoform 1: Lysosome membrane |
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1000G (Phase 3): 841 ESP6500 (SI-V2): 135 ExAC (r0.3.1): 582 dbSNP(Build 147): 2080 |
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Chinese health control (254): 19 European health control (283): 17 Chinese patients (168): |
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| Gene Name: CTNS DNMR-average: 0.0000205333333333 DNMR-SC: 0.0000214623 |
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| O60931 |