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TAATCAATGAGGTTCCGGTCAATTA[A/C]GCTGCTGTGCCAGAAGCCACCTGGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605204 MIM: 608050 | ||||||||||||||||||||
Literature Links: |
TOR1A PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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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 |
TOR1A - torsin family 1 member A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000113.2 | 846 | Missense Mutation | GTA,TTA | V,L 257 | NP_000104.1 |
TOR1B - torsin family 1 member B | ||||||
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There are no transcripts associated with this gene. |