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Relevance to Autism

A SNP within the GUCY1A2 gene showed association in the secondary analyses in a combined AGP GWA sample (Anney et al., 2012).

Molecular Function

Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide.

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References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Individual common variants exert weak effects on the risk for autism spectrum disorderspi.
ASD
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN400R001 
 synonymous_variant 
 G>A 
 p.(=) 
 De novo 
  
  

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN400C001 
 intron_variant 
 rs11211996 
 c.304-1818A>G 
  
 Autism Genome Project (AGP) 
 Combined (Stages 1 and 2) 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Duplication
 1
 
11
Deletion
 1
 
11
Duplication
 1
 
11
Deletion-Duplication
 26
 

No Animal Model Data Available

 

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