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CCAGGAAACCGAGGAAATGAAGACG[C/G]GAAGGACTACCCGCCTTCAGCAGCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
12 submissions
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Phenotype: |
MIM: 614512 MIM: 614513 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
TOR1AIP1 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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TOR1AIP1 - torsin 1A interacting protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001267578.1 | 834 | Missense Mutation | CGA,GGA | R,G 125 | NP_001254507.1 | |
NM_015602.3 | 834 | Missense Mutation | CGA,GGA | R,G 125 | NP_056417.2 | |
XM_011509403.1 | 834 | Missense Mutation | CGA,GGA | R,G 125 | XP_011507705.1 | |
XM_011509404.1 | 834 | Missense Mutation | CGA,GGA | R,G 125 | XP_011507706.1 |
TOR1AIP2 - torsin 1A interacting protein 2 | ||||||
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There are no transcripts associated with this gene. |