SARNP
SAP domain containing ribonucleoprotein
Summary
This gene encodes a protein that is upregulated in response to various cytokines. The encoded protein may play a role in cell cycle progression. A translocation between this gene and the myeloid/lymphoid leukemia gene, resulting in expression of a chimeric protein, has been associated with acute myelomonocytic leukemia. Pseudogenes exist on chromosomes 7 and 8. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
Known Variants12 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1201970705 | 12:56,154,354 | C/G | — | uncertain significance |
| rs143118162 | 12:56,154,968 | A/T | downstream gene variant | — |
| rs1282977975 | 12:56,182,868 | G/C | — | uncertain significance |
| rs1185268168 | 12:56,182,875 | G/A | — | uncertain significance |
| rs200349741 | 12:56,188,149 | T/C | — | uncertain significance |
| rs183066383 | 12:56,188,600 | C/T | — | uncertain significance |
| rs562849695 | 12:56,188,616 | T/C | — | uncertain significance |
| rs187372065 | 12:56,191,879 | C/G | intron variant | — |
| rs200530673 | 12:56,194,367 | G/T | — | uncertain significance |
| rs1174476711 | 12:56,194,413 | C/T | — | uncertain significance |
| rs2540240484 | 12:56,197,419 | C/T | — | uncertain significance |
| rs781589558 | 12:56,211,479 | T/C | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.