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TTCTTGTTCCTGTTTCCTCCGGGCC[A/G]CCTCCTCTTTCTTCTTCCTCTTCTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 123859 | ||||||||||||||||||||
Literature Links: |
CARS 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 |
CARS - cysteinyl-tRNA synthetase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001014437.2 | 2110 | Missense Mutation | GCG,GTG | A,V 751 | NP_001014437.1 | |
NM_001194997.1 | 2110 | Missense Mutation | GCG,GTG | A,V 751 | NP_001181926.1 | |
NM_001751.5 | 2110 | Missense Mutation | GCG,GTG | A,V 668 | NP_001742.1 | |
NM_139273.3 | 2110 | Missense Mutation | GCG,GTG | A,V 668 | NP_644802.1 | |
XM_006718341.3 | 2110 | Missense Mutation | GCG,GTG | A,V 658 | XP_006718404.1 | |
XM_017018389.1 | 2110 | Missense Mutation | GCG,GTG | A,V 658 | XP_016873878.1 | |
XM_017018390.1 | 2110 | Missense Mutation | GCG,GTG | A,V 658 | XP_016873879.1 | |
XM_017018391.1 | 2110 | Missense Mutation | GCG,GTG | A,V 576 | XP_016873880.1 | |
XM_017018392.1 | 2110 | Missense Mutation | GCG,GTG | A,V 681 | XP_016873881.1 |