Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTAGCTGGAAACCACCTTCTGGATC[C/T]GTTCCCGTACTTCCTTTGGTCCCAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612799 | ||||||||||||||||||||
Literature Links: |
EARS2 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 |
EARS2 - glutamyl-tRNA synthetase 2, mitochondrial | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001083614.1 | 1579 | Missense Mutation | CAG,CGG | Q,R 516 | NP_001077083.1 | |
NM_001308211.1 | 1579 | Intron | NP_001295140.1 | |||
XM_011545738.1 | 1579 | Missense Mutation | CAG,CGG | Q,R 492 | XP_011544040.1 | |
XM_011545739.1 | 1579 | Missense Mutation | CAG,CGG | Q,R 423 | XP_011544041.1 |