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CACCAGATGCAGACTTGGATGTAAC[C/T]AACATAATCCAAGCGGATGAGCCCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600859 MIM: 613635 MIM: 600259 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AIMP2 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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AIMP2 - aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001326606.1 | 263 | Silent Mutation | ACC,ACT | T,T 50 | NP_001313535.1 | |
NM_001326607.1 | 263 | Intron | NP_001313536.1 | |||
NM_001326609.1 | 263 | Silent Mutation | ACC,ACT | T,T 12 | NP_001313538.1 | |
NM_001326611.1 | 263 | Silent Mutation | ACC,ACT | T,T 12 | NP_001313540.1 | |
NM_006303.3 | 263 | Silent Mutation | ACC,ACT | T,T 90 | NP_006294.2 | |
XM_005249847.3 | 263 | Silent Mutation | ACC,ACT | T,T 83 | XP_005249904.1 | |
XM_005249848.2 | 263 | Silent Mutation | ACC,ACT | T,T 50 | XP_005249905.1 | |
XM_005249850.3 | 263 | Silent Mutation | ACC,ACT | T,T 12 | XP_005249907.1 | |
XM_006715772.2 | 263 | Silent Mutation | ACC,ACT | T,T 46 | XP_006715835.1 | |
XM_011515519.1 | 263 | Silent Mutation | ACC,ACT | T,T 61 | XP_011513821.1 |
EIF2AK1 - eukaryotic translation initiation factor 2 alpha kinase 1 | ||||||
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There are no transcripts associated with this gene. |
PMS2 - PMS1 homolog 2, mismatch repair system component | ||||||
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There are no transcripts associated with this gene. |