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AGCCGTCTCCTGTTATGACCAGGAG[A/T]GGGCTGCGGGACTCTCATTCCTCTG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
2 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 |
---|---|---|
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 |
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 | 908 | Missense Mutation | AGA,AGT | R,S 149 | NP_001254507.1 | |
NM_015602.3 | 908 | Missense Mutation | AGA,AGT | R,S 149 | NP_056417.2 | |
XM_011509403.1 | 908 | Missense Mutation | AGA,AGT | R,S 149 | XP_011507705.1 | |
XM_011509404.1 | 908 | Missense Mutation | AGA,AGT | R,S 149 | XP_011507706.1 |
TOR1AIP2 - torsin 1A interacting protein 2 | ||||||
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There are no transcripts associated with this gene. |