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Search Thermo Fisher Scientific
CTGTGTCGTCATTAGCATCATTGGC[A/G]CATGGGCAGTTGGATGAGAAGGAAC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601517 MIM: 605093 | ||||||||||||||||||||
Literature Links: |
ATXN2 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
ATXN2 - ataxin 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001310121.1 | 3234 | Missense Mutation | GCG,GTG | A,V 1024 | NP_001297050.1 | |
NM_001310123.1 | 3234 | Missense Mutation | GCG,GTG | A,V 957 | NP_001297052.1 | |
NM_002973.3 | 3234 | Missense Mutation | GCG,GTG | A,V 1264 | NP_002964.3 |
SH2B3 - SH2B adaptor protein 3 | ||||||
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There are no transcripts associated with this gene. |