BSN
bassoon presynaptic cytomatrix protein
Summary
Neurotransmitters are released from a specific site in the axon terminal called the active zone, which is composed of synaptic vesicles and a meshwork of cytoskeleton underlying the plasma membrane. The protein encoded by this gene is thought to be a scaffolding protein involved in organizing the presynaptic cytoskeleton. The gene is expressed primarily in neurons in the brain. A similar gene product in rodents is concentrated in the active zone of axon terminals and tightly associated with cytoskeletal structures, and is essential for regulating neurotransmitter release from a subset of synapses. [provided by RefSeq, Jul 2008]
Known Variants373 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs142662811 | 3:49,590,756 | C/T | upstream gene variant | — |
| rs922281244 | 3:49,592,058 | A/G | — | uncertain significance |
| rs1366530182 | 3:49,592,075 | G/C | — | uncertain significance |
| rs2472734987 | 3:49,592,085 | C/T | — | uncertain significance |
| rs1382496840 | 3:49,592,089 | C/G | — | likely benign |
| rs940902724 | 3:49,592,126 | C/G | — | uncertain significance |
| rs1002210592 | 3:49,592,157 | C/G | — | uncertain significance |
| rs540515633 | 3:49,592,227 | C/T | — | likely benign |
| rs7625857 | 3:49,596,462 | C/T | upstream gene variant | — |
| rs11130206 | 3:49,596,593 | C/G | upstream gene variant | — |
| rs55873331 | 3:49,597,055 | C/T | intron variant | — |
| rs9858280 | 3:49,597,737 | T/C | intron variant | — |
| rs6797299 | 3:49,609,794 | G/C | — | — |
| rs34427167 | 3:49,610,223 | C/T | intron variant | — |
| rs11130207 | 3:49,611,666 | T/G | intron variant | — |
| rs537065442 | 3:49,615,202 | A/G | — | — |
| rs113465792 | 3:49,616,129 | G/A | intron variant | — |
| rs9869256 | 3:49,624,095 | T/G | intron variant | — |
| rs7632342 | 3:49,631,221 | G/T | intron variant | — |
| rs190557032 | 3:49,639,697 | A/G | — | — |
| rs11917431 | 3:49,644,012 | C/G | — | — |
| rs11921590 | 3:49,644,193 | T/C | intron variant | — |
| rs7646288 | 3:49,646,263 | G/A | intron variant | — |
| rs11721148 | 3:49,646,669 | G/C | — | — |
| rs7614725 | 3:49,650,395 | G/A | intron variant | — |
| rs9866749 | 3:49,650,935 | A/C | — | — |
| rs185065281 | 3:49,651,228 | G/A | intron variant | — |
| rs1352890 | 3:49,652,156 | C/T | intron variant | — |
| rs13096480 | 3:49,658,084 | A/T | — | — |
| rs756887221 | 3:49,662,413 | C/T | — | uncertain significance |
| rs559032448 | 3:49,662,452 | G/C | — | uncertain significance |
| rs777512475 | 3:49,662,466 | A/G | — | uncertain significance |
| rs140305957 | 3:49,662,500 | A/G | — | likely benign |
| rs757868271 | 3:49,662,511 | C/T | — | uncertain significance |
| rs2472851363 | 3:49,662,558 | C/T | — | likely benign |
| rs143794367 | 3:49,662,564 | G/T | — | uncertain significance |
| rs140421176 | 3:49,662,566 | C/T | — | likely benign |
| rs750014015 | 3:49,662,584 | G/A | — | uncertain significance |
| rs1372678639 | 3:49,662,620 | C/T | — | uncertain significance |
| rs150855300 | 3:49,662,654 | C/T | — | likely benign |
| rs747289633 | 3:49,662,719 | C/T | — | uncertain significance |
| rs2052334659 | 3:49,662,758 | A/C | — | uncertain significance |
| rs2472851970 | 3:49,662,759 | G/T | — | uncertain significance |
| rs9837341 | 3:49,664,767 | A/C | — | — |
| rs115324393 | 3:49,670,351 | A/C | intron variant | — |
| rs187548066 | 3:49,671,500 | G/C | intron variant | — |
| rs9862080 | 3:49,674,458 | A/G | regulatory region variant | — |
| rs2172252 | 3:49,678,307 | A/T | intron variant | — |
| rs775327878 | 3:49,679,767 | C/A | — | uncertain significance |
| rs192482729 | 3:49,679,787 | G/A | — | likely benign |
| rs923720886 | 3:49,679,796 | C/G | — | uncertain significance |
| rs757213353 | 3:49,679,837 | C/T | — | uncertain significance |
| rs745649866 | 3:49,679,839 | C/G | — | uncertain significance |
| rs746661090 | 3:49,679,867 | G/A | — | uncertain significance |
| rs771441917 | 3:49,679,920 | A/G | — | uncertain significance |
| rs202140904 | 3:49,679,926 | G/A | — | uncertain significance |
| rs200890584 | 3:49,679,930 | C/T | — | uncertain significance |
| rs1472556033 | 3:49,679,947 | G/A | — | uncertain significance |
| rs750415602 | 3:49,679,971 | G/T | — | uncertain significance |
| rs200256262 | 3:49,680,041 | C/T | — | likely benign |
| rs150958807 | 3:49,680,057 | C/T | — | likely benign |
| rs137948444 | 3:49,680,058 | G/A | — | likely benign |
| rs138319879 | 3:49,680,071 | G/T | — | uncertain significance |
| rs769282507 | 3:49,680,094 | C/T | — | uncertain significance |
| rs148125466 | 3:49,680,130 | G/A | — | likely benign |
| rs143449665 | 3:49,680,132 | G/A | — | likely benign |
| rs201569483 | 3:49,680,150 | G/A | — | likely benign |
| rs71324983 | 3:49,680,225 | C/T | — | likely benign |
| rs778102168 | 3:49,680,356 | C/T | — | uncertain significance |
| rs1311610991 | 3:49,680,358 | A/G | — | uncertain significance |
| rs962864521 | 3:49,680,413 | C/T | — | uncertain significance |
| rs1437574102 | 3:49,680,433 | A/G | — | uncertain significance |
| rs778296588 | 3:49,680,443 | C/T | — | uncertain significance |
| rs937901232 | 3:49,680,512 | A/G | — | uncertain significance |
| rs201532186 | 3:49,680,548 | A/T | — | uncertain significance |
| rs6770670 | 3:49,686,682 | T/C | intron variant | — |
| rs55754265 | 3:49,687,486 | C/A | — | — |
| rs551158194 | 3:49,688,081 | C/T | — | uncertain significance |
| rs144296383 | 3:49,688,101 | A/G | — | likely benign |
| rs767137108 | 3:49,688,137 | G/C | — | uncertain significance |
| rs139787101 | 3:49,688,155 | T/C | — | benign |
| rs2472895884 | 3:49,688,225 | C/T | — | uncertain significance |
| rs778638069 | 3:49,688,252 | T/C | — | likely benign |
| rs374514174 | 3:49,688,268 | C/T | — | uncertain significance |
| rs775135405 | 3:49,688,270 | C/A | — | uncertain significance |
| rs369739682 | 3:49,688,300 | C/T | — | uncertain significance |
| rs377595563 | 3:49,688,384 | C/T | — | uncertain significance |
| rs185089105 | 3:49,688,385 | C/T | — | uncertain significance |
| rs774698406 | 3:49,688,414 | C/G | — | uncertain significance |
| rs147800019 | 3:49,688,441 | G/A | — | uncertain significance |
| rs142488750 | 3:49,688,472 | T/C | — | uncertain significance |
| rs143643302 | 3:49,689,156 | G/A | — | uncertain significance |
| rs150207451 | 3:49,689,167 | G/C | — | uncertain significance |
| rs770201647 | 3:49,689,168 | G/A | — | uncertain significance |
| rs2472898792 | 3:49,689,207 | C/G | — | uncertain significance |
| rs34762726 | 3:49,689,210 | G/A | — | benign |
| rs1317529866 | 3:49,689,229 | A/G | — | uncertain significance |
| rs139600439 | 3:49,689,249 | G/C | — | uncertain significance |
| rs977844076 | 3:49,689,252 | G/A | — | uncertain significance |
| rs2472899131 | 3:49,689,338 | A/T | — | uncertain significance |
Showing 100 of 373 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.