rs6104571
This variant is located in the SNAP25 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Investigation of variation in SNAP‐25 and ADHD and relationship to co‐morbid major depressive disorderAssociationN=351Kim JW et al.(2007)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Dense mapping study of SNAP-25 gene in 229 ADHD families found nominally significant association with rs3787283 (P=0.002) in strong linkage disequilibrium with previously implicated SNPs rs3746544 and rs1051312 (D'=0.89-0.94). Meta-analysis pooling data from five prior studies showed modest support for rs3746544 (P=0.048) and rs6077690 (P=0.031). Exploratory phenotype analysis revealed the strongest associations in ADHD patients with co-morbid major depressive disorder, where six SNPs and a haplotype block showed significant association (P=0.012-0.045).
About SNAP25
Synaptic vesicle membrane docking and fusion is mediated by SNAREs (soluble N-ethylmaleimide-sensitive factor attachment protein receptors) located on the vesicle membrane (v-SNAREs) and the target membrane (t-SNAREs). The assembled v-SNARE/t-SNARE complex consists of a bundle of four helices, one of which is supplied by v-SNARE and the other three by t-SNARE. For t-SNAREs on the plasma membrane, the protein syntaxin supplies one helix and the protein encoded by this gene contributes the other two. Therefore, this gene product is a presynaptic plasma membrane protein involved in the regulation of neurotransmitter release. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
View all SNAP25 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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