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TGAAGGAAGAGGAGGAAGAGGACGG[A/G]GAGGACGATGAAGAGGAAGAGGAGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603680 MIM: 605332 | ||||||||||||||||||||
Literature Links: |
ATXN8OS 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 |
ATXN8OS - ATXN8 opposite strand (non-protein coding) | ||||||
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There are no transcripts associated with this gene. |
KLHL1 - kelch like family member 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286725.1 | 1037 | Silent Mutation | TCC,TCT | S,S 81 | NP_001273654.1 | |
NM_020866.2 | 1037 | Silent Mutation | TCC,TCT | S,S 81 | NP_065917.1 | |
XM_017020678.1 | 1037 | Intron | XP_016876167.1 | |||
XM_017020679.1 | 1037 | Intron | XP_016876168.1 |