rs1245840
This variant is located in the SYT1 gene.
About SYT1
This gene encodes a member of the synaptotagmin protein family. The synaptotagmins are integral membrane proteins of synaptic vesicles that serve as calcium sensors in the process of vesicular trafficking and exocytosis. The encoded protein participates in triggering neurotransmitter release at the synapse in response to calcium binding. Mutations in this gene are associated with Baker-Gordon syndrome. [provided by RefSeq, Jan 2023]
View all SYT1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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