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TATCTATTTTGCAGTGTAGTCTCCC[A/G]GCAGCAATAAACCTGGACAGTTCCC
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607640 | |||||||||||||||||||||||
Literature Links: |
ATXN7 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 - 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 |
ATXN7 - ataxin 7 | ||||||
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There are no transcripts associated with this gene. |
PSMD6 - proteasome 26S subunit, non-ATPase 6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001271779.1 | 1207 | Silent Mutation | GCC,GCT | A,A 393 | NP_001258708.1 | |
NM_001271780.1 | 1207 | Silent Mutation | GCC,GCT | A,A 302 | NP_001258709.1 | |
NM_001271781.1 | 1207 | Silent Mutation | GCC,GCT | A,A 301 | NP_001258710.1 | |
NM_014814.2 | 1207 | Silent Mutation | GCC,GCT | A,A 340 | NP_055629.1 | |
XM_005265619.1 | 1207 | Silent Mutation | GCC,GCT | A,A 291 | XP_005265676.1 | |
XM_011534288.1 | 1207 | Missense Mutation | CCG,CTG | P,L 337 | XP_011532590.1 | |
XM_017007569.1 | 1207 | Silent Mutation | GCC,GCT | A,A 295 | XP_016863058.1 |
PSMD6-AS2 - PSMD6 antisense RNA 2 | ||||||
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There are no transcripts associated with this gene. |