Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GATGGCCTCTCCAAGATGATTCAAA[C/T]ACCAGATGCAGACTTGGATGTAACC
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 |
---|---|---|
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 |
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 | 238 | Missense Mutation | ACA,ATA | T,I 42 | NP_001313535.1 | |
NM_001326607.1 | 238 | Intron | NP_001313536.1 | |||
NM_001326609.1 | 238 | Missense Mutation | ACA,ATA | T,I 4 | NP_001313538.1 | |
NM_001326611.1 | 238 | Missense Mutation | ACA,ATA | T,I 4 | NP_001313540.1 | |
NM_006303.3 | 238 | Missense Mutation | ACA,ATA | T,I 82 | NP_006294.2 | |
XM_005249847.3 | 238 | Missense Mutation | ACA,ATA | T,I 75 | XP_005249904.1 | |
XM_005249848.2 | 238 | Missense Mutation | ACA,ATA | T,I 42 | XP_005249905.1 | |
XM_005249850.3 | 238 | Missense Mutation | ACA,ATA | T,I 4 | XP_005249907.1 | |
XM_006715772.2 | 238 | Missense Mutation | ACA,ATA | T,I 38 | XP_006715835.1 | |
XM_011515519.1 | 238 | Missense Mutation | ACA,ATA | T,I 53 | 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. |