Chromosome - 7 SNP - rs12670839 Gene Name - CNTNAP2

Basic Information

Genotype Frequency
  • CC
  • CT
  • TT
Allele Frequency
  • C
  • T

SNP Expression Description

General SNP Description

More information is being conducted on this SNP. This gene is one of the largest genes in the human genome by encompassing 1.5% of chromosome 7. It also directly bind to forkhead box protein P2, which is a transcription factor related to speech and language development. This gene encodes a protein of the neurexin family, which is a family of pre-synaptic proteins that helps attach two neurons together at the synapse. Thus, functions of this gene include cell adhesion molecules and receptors. There is some evidence suggesting that this gene is associated with Autism Spectrum Disorder, but this continues under investigation. In addition to that, this gene is also associated with Specific Language Impairment Disorder. Another possible disease association is with Cortical Dysplasia-Focal Epilepsy Syndrome, which is a condition that usually exists prior to birth in the growing embryo, where neurons failed to migrate to the proper location in an area of the brain or some neurons could be larger in size as well, this leads to disorganization of the normal structure of cerebral cortex. This causes signals sent through neurons to misfire or send an incorrect signal, which results in seizures.

For more information, please schedule a consult with one of our HealthCoach7 Genetic Specialist.