{{Rsnum
|rsid=695871
|Gene=ATXN2
|Chromosome=12
|position=111599196
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=G
|GMAF=0.4587
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=ATXN2,LOC102723619
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 6.2 | 44.6 | 49.2
| HCB | 88.9 | 11.1 | 0.0
| JPT | 70.5 | 27.3 | 2.3
| YRI | 65.1 | 31.7 | 3.2
| ASW | 0.0 | 0.0 | 0.0
| CHB | 88.9 | 11.1 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=695871
|allele=C
|frequency=0.725
|uid=1103649539001
|type=homozygous_SNP
|hugo=ATXN2
|ensembl gene=ENSG00000204842
|ensembl transcript=ENST00000377617
|sift=
|disease=Defects in ATXN2 are the cause of spinocerebellar ataxia type 2 (SCA2) (MIM:183090); also known as olivopontocerebellar atrophy II (OPCA II). SCA2 is a neurodegenerative disorder characterized by progressive cerebellar ataxia, hyporeflexia, myoclonus and action tremor, and dopamine-responsive parkinsonism. It affects the cerebellum and other areas of the central nervous system.
}}

{{PMID Auto
|PMID=16205789
|Title=Positive selection of a pre-expansion CAG repeat of the human SCA2 gene.
|OA=1
}}

{{PMID Auto
|PMID=20016785
|Title=Genetic variance in the spinocerebellar ataxia type 2 (ATXN2) gene in children with severe early onset obesity.
|OA=1
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}