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CTGGGAAACTATTCTGTGGCGACTG[C/T]GTGTTGGAGGCAGGTGTCATGGAGG
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 | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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ATXN2 - ataxin 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001310121.1 | 3001 | Silent Mutation | ACA,ACG | T,T 946 | NP_001297050.1 | |
NM_001310123.1 | 3001 | Silent Mutation | ACA,ACG | T,T 904 | NP_001297052.1 | |
NM_002973.3 | 3001 | Silent Mutation | ACA,ACG | T,T 1211 | NP_002964.3 |
SH2B3 - SH2B adaptor protein 3 | ||||||
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There are no transcripts associated with this gene. |