Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCCACGCCCCCGCGAGGGCCGGCCT[C/G]GAGCCCGCAGCCCCCAGGGCCTGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612800 MIM: 601566 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CARS2 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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CARS2 - cysteinyl-tRNA synthetase 2, mitochondrial (putative) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_024537.3 | 296 | Intron | NP_078813.1 | |||
XM_006719953.2 | 296 | Intron | XP_006720016.1 | |||
XM_011521116.1 | 296 | Intron | XP_011519418.1 | |||
XM_011521117.2 | 296 | Intron | XP_011519419.1 | |||
XM_011521118.2 | 296 | Intron | XP_011519420.1 | |||
XM_017020741.1 | 296 | Intron | XP_016876230.1 | |||
XM_017020742.1 | 296 | Intron | XP_016876231.1 |
ING1 - inhibitor of growth family member 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001267728.1 | 296 | Intron | NP_001254657.1 | |||
NM_005537.5 | 296 | Intron | NP_005528.4 | |||
NM_198217.2 | 296 | Intron | NP_937860.1 | |||
NM_198218.2 | 296 | UTR 5 | NP_937861.1 | |||
NM_198219.2 | 296 | UTR 5 | NP_937862.1 |
LOC105376684 - translation initiation factor IF-2-like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
XM_011521137.2 | 296 | Missense Mutation | CAG,GAG | Q,E 170 | XP_011519439.1 |