| Entrez Gene ID | 23165 |
|---|---|
| Official Gene Symbol | NUP205 (GeneCards) |
| Full name | nucleoporin 205 |
| Location | 7q33 |
| Other ids | Vega : OTTHUMG00000155497 MIM : 614352 HGNC : HGNC:18658 Ensembl : ENSG00000155561 |
| Other names | NPHS13, C7orf14 |
| Summary | This gene encodes a nucleoporin, which is a subunit of the nuclear pore complex that functions in active transport of proteins, RNAs and ribonucleoprotein particles between the nucleus and cytoplasm. Mutations in this gene are associated with steroid-resistant nephrotic syndrome. [provided by RefSeq, Jul 2016] |
Found 5 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 10412 | 23165 | NUP205 | 7 | 135328760 | 135328760 | Asymptomatic | HiSeq X Ten |
| 10596 | 23165 | NUP205 | 7 | 135332590 | 135332590 | Asymptomatic | HiSeq X Ten |
| 10835 | 23165 | NUP205 | 7 | 135272851 | 135272851 | Asymptomatic | HiSeq X Ten |
| 11206 | 23165 | NUP205 | 7 | 135345425 | 135345425 | Asymptomatic | HiSeq X Ten |
| 26482 | 23165 | NUP205 | 7 | 135332094 | 135332094 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |