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TTCAGTTTTTCAATTTCACGCTTAA[C/T]TGGGGCAAACTTCTCAATCACAGCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
18 submissions
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Phenotype: |
MIM: 604733 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
WARS2 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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WARS2 - tryptophanyl tRNA synthetase 2, mitochondrial | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015836.3 | 799 | Missense Mutation | ATT,GTT | I,V 317 | NP_056651.1 | |
NM_201263.2 | 799 | UTR 3 | NP_957715.1 | |||
XM_005270350.3 | 799 | Missense Mutation | ATT,GTT | I,V 299 | XP_005270407.1 | |
XM_011540494.2 | 799 | Missense Mutation | ATT,GTT | I,V 294 | XP_011538796.1 | |
XM_011540495.2 | 799 | Missense Mutation | ATT,GTT | I,V 231 | XP_011538797.1 | |
XM_017000038.1 | 799 | Missense Mutation | ATT,GTT | I,V 298 | XP_016855527.1 | |
XM_017000039.1 | 799 | Missense Mutation | ATT,GTT | I,V 294 | XP_016855528.1 | |
XM_017000040.1 | 799 | Missense Mutation | ATT,GTT | I,V 260 | XP_016855529.1 | |
XM_017000041.1 | 799 | Missense Mutation | ATT,GTT | I,V 204 | XP_016855530.1 | |
XM_017000042.1 | 799 | UTR 3 | XP_016855531.1 |