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TACTGACAAAGAAGAGTACTAGAAC[C/T]GTTGATCAGAGAGGGAGCCGATCCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600709 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
IARS 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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IARS - isoleucyl-tRNA synthetase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002161.5 | 3816 | Missense Mutation | AGT,GGT | S,G 1165 | NP_002152.2 | |
NM_013417.3 | 3816 | Missense Mutation | AGT,GGT | S,G 1165 | NP_038203.2 |