CNP
2',3'-cyclic nucleotide 3' phosphodiesterase
Summary
Predicted to enable 2',3'-cyclic-nucleotide 3'-phosphodiesterase activity. Involved in substantia nigra development. Located in cytoplasm; extracellular space; and microtubule. Implicated in hypomyelinating leukodystrophy 20; multiple sclerosis; and schizophrenia. Biomarker of alcoholic liver cirrhosis; multiple sclerosis; and restless legs syndrome. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1387950081 | 17:40,118,826 | C/T | — | pathogenic |
| rs1422332023 | 17:40,118,836 | C/T | — | pathogenic |
| rs1305166537 | 17:40,120,107 | A/G | — | uncertain significance |
| rs199923805 | 17:40,120,141 | A/C | — | pathogenic |
| rs2050933471 | 17:40,120,327 | C/T | — | pathogenic |
| rs902026818 | 17:40,120,356 | G/A | — | uncertain significance |
| rs374975038 | 17:40,120,360 | G/A | — | uncertain significance |
| rs112899212 | 17:40,120,460 | C/T | — | likely benign |
| rs201726873 | 17:40,120,475 | G/A | — | likely benign |
| rs377381620 | 17:40,120,643 | G/A | — | likely benign |
| rs11079027 | 17:40,123,521 | A/G | downstream gene variant | — |
| rs199706471 | 17:40,123,938 | G/C | — | likely benign |
| rs1555643897 | 17:40,124,034 | G/T | — | likely benign |
| rs2544758483 | 17:40,125,518 | C/T | — | uncertain significance |
| rs782078035 | 17:40,125,524 | C/T | — | uncertain significance |
| rs2544758512 | 17:40,125,541 | C/T | — | uncertain significance |
| rs199535375 | 17:40,125,586 | G/A | — | uncertain significance |
| rs1555644169 | 17:40,125,606 | G/T | — | uncertain significance |
| rs782472388 | 17:40,125,608 | C/T | — | uncertain significance |
| rs782532165 | 17:40,125,691 | G/A | — | uncertain significance |
| rs2051026773 | 17:40,125,710 | G/A | — | pathogenic |
| rs376643712 | 17:40,125,733 | C/T | — | uncertain significance |
| rs376149897 | 17:40,125,755 | G/A | — | uncertain significance |
| rs2229931 | 17:40,125,771 | C/T | — | benign |
| rs782003027 | 17:40,125,773 | A/C | — | uncertain significance |
| rs202171457 | 17:40,125,781 | C/T | — | uncertain significance |
| rs781913833 | 17:40,125,803 | G/C | — | uncertain significance |
| rs782657028 | 17:40,125,811 | C/T | — | uncertain significance |
| rs2070106 | 17:40,125,864 | G/A | synonymous variant | — |
| rs782096149 | 17:40,125,893 | C/T | — | uncertain significance |
| rs1424953656 | 17:40,125,895 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.