SYNCRIP
synaptotagmin binding cytoplasmic RNA interacting protein
Summary
This gene encodes a member of the cellular heterogeneous nuclear ribonucleoprotein (hnRNP) family. hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA (hnRNA) and regulate alternative splicing, polyadenylation, and other aspects of mRNA metabolism and transport. The encoded protein plays a role in multiple aspects of mRNA maturation and is associated with several multiprotein complexes including the apoB RNA editing-complex and survival of motor neurons (SMN) complex. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 20. [provided by RefSeq, Dec 2011]
Known Variants41 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2537715397 | 6:86,324,482 | A/G | — | uncertain significance |
| rs774784873 | 6:86,324,483 | C/A | — | uncertain significance |
| rs760714882 | 6:86,324,511 | T/A | — | likely benign |
| rs750345852 | 6:86,324,523 | G/C | — | uncertain significance |
| rs200313499 | 6:86,324,535 | T/C | — | benign |
| rs2537716219 | 6:86,324,544 | G/C | — | uncertain significance |
| rs1270684969 | 6:86,324,558 | T/C | — | likely benign |
| rs199509715 | 6:86,324,570 | C/T | — | likely benign |
| rs746222199 | 6:86,324,604 | T/C | — | uncertain significance |
| rs2537718294 | 6:86,324,664 | A/C | — | uncertain significance |
| rs555193893 | 6:86,324,702 | G/A | — | likely benign |
| rs1455212560 | 6:86,324,704 | G/A | — | uncertain significance |
| rs1056098177 | 6:86,324,706 | C/A | — | uncertain significance |
| rs200994802 | 6:86,324,743 | C/T | — | uncertain significance |
| rs370683161 | 6:86,324,782 | C/T | — | uncertain significance |
| rs1805619034 | 6:86,324,785 | C/T | — | uncertain significance |
| rs149887697 | 6:86,324,792 | G/A | — | likely benign |
| rs769858049 | 6:86,324,823 | G/A | — | uncertain significance |
| rs2128278447 | 6:86,324,978 | A/C | — | uncertain significance |
| rs1805647463 | 6:86,325,022 | G/C | — | uncertain significance |
| rs2537760998 | 6:86,328,541 | A/T | — | uncertain significance |
| rs773805420 | 6:86,329,104 | T/C | — | uncertain significance |
| rs759217871 | 6:86,329,108 | C/T | — | uncertain significance |
| rs2537802636 | 6:86,332,264 | C/T | — | uncertain significance |
| rs2537820926 | 6:86,333,769 | T/C | — | uncertain significance |
| rs2128286909 | 6:86,333,797 | T/C | — | uncertain significance |
| rs16876385 | 6:86,334,964 | C/A | — | — |
| rs1157393420 | 6:86,346,689 | T/G | — | uncertain significance |
| rs753313193 | 6:86,346,705 | C/T | — | uncertain significance |
| rs1808543772 | 6:86,346,722 | A/G | — | association |
| rs2537965681 | 6:86,346,725 | G/A | — | uncertain significance |
| rs2537966183 | 6:86,346,791 | G/A | — | uncertain significance |
| rs2537966553 | 6:86,346,812 | G/T | — | uncertain significance |
| rs2128301121 | 6:86,346,961 | C/G | — | uncertain significance |
| rs2537968287 | 6:86,346,965 | G/T | — | uncertain significance |
| rs2537999819 | 6:86,350,012 | G/A | — | uncertain significance |
| rs2538002802 | 6:86,350,260 | T/A | — | uncertain significance |
| rs1364251639 | 6:86,351,094 | T/C | — | uncertain significance |
| rs554052753 | 6:86,351,111 | T/C | — | uncertain significance |
| rs199668111 | 6:86,351,143 | A/T | — | uncertain significance |
| rs182184107 | 6:86,354,842 | G/C | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.