NPTN
neuroplastin
Summary
This gene encodes a type I transmembrane protein belonging to the Ig superfamily. The protein is believed to be involved in cell-cell interactions or cell-substrate interactions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2009]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs775199794 | 15:73,862,545 | C/A | — | uncertain significance |
| rs2505219743 | 15:73,862,577 | A/G | — | uncertain significance |
| rs35100473 | 15:73,862,606 | C/T | — | benign |
| rs1216550922 | 15:73,862,668 | C/T | — | uncertain significance |
| rs374225987 | 15:73,862,682 | G/A | — | uncertain significance |
| rs1159772182 | 15:73,862,687 | C/A | — | uncertain significance |
| rs75660208 | 15:73,862,767 | G/A | — | benign |
| rs183053514 | 15:73,870,348 | G/C | intron variant | — |
| rs769814248 | 15:73,879,916 | C/T | — | uncertain significance |
| rs112941596 | 15:73,884,338 | T/G | — | uncertain significance |
| rs751038909 | 15:73,884,418 | G/A | — | uncertain significance |
| rs151265576 | 15:73,904,698 | T/A | intron variant | — |
| rs183542259 | 15:73,919,986 | A/G | regulatory region variant | — |
| rs577148783 | 15:73,923,335 | T/C | — | — |
| rs1898857069 | 15:73,925,493 | G/A | — | uncertain significance |
| rs1449689929 | 15:73,925,543 | G/T | — | conflicting classifications of pathogenicity |
Gene information from NCBI Gene. Variant classifications from ClinVar.