rs2292813
This is a intron variant variant in the SLC25A12 gene.
▶Research that mentions this SNP (1)
▶Mitochondrial aspartate/glutamate carrier SLC25A12 gene is associated with autismAssociationN=543Joni A. Turunen et al.(2008)· Autism Research
Case-control association study of 117 Asperger syndrome cases and 426 Caucasian controls genotyping three SNPs in SLC25A12, a mitochondrial aspartate-glutamate carrier gene. rs6716901 showed significant association with Asperger syndrome (P = 0.008, OR = 1.7, 95% CI: 0.98–3.02) after Bonferroni correction, while rs2056202 (P = 0.26) and rs3765166 (P = 0.11) showed no significant associations.
About SLC25A12
This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in this gene may be associated with autism, and mutations in this gene may also be a cause of global cerebral hypomyelination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]
View all SLC25A12 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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