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TGACCACACCTCCCCAGTCTGGACT[A/G]TTCCTGAGGCTATGGGCAATGTGCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613212 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AARSD1 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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AARSD1 - alanyl-tRNA synthetase domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001261434.1 | 1786 | Silent Mutation | AAC,AAT | N,N 306 | NP_001248363.1 |
PTGES3L-AARSD1 - PTGES3L-AARSD1 readthrough | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001136042.2 | 1786 | Silent Mutation | AAC,AAT | N,N 480 | NP_001129514.2 | |
NM_025267.3 | 1786 | Silent Mutation | AAC,AAT | N,N 419 | NP_079543.1 |