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AAAGAATTCAGTAGCTTTGTTGTCC[A/G]GACCAACACATGTGGAGAGTTGCGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
1 submissions
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Phenotype: |
MIM: 611503 MIM: 610956 | ||||||||||||||||||||
Literature Links: |
CENPL 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 |
CENPL - centromere protein L | ||||||
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There are no transcripts associated with this gene. |
DARS2 - aspartyl-tRNA synthetase 2, mitochondrial | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_018122.4 | 720 | Missense Mutation | CAG,CGG | Q,R 50 | NP_060592.2 | |
XM_006711427.3 | 720 | Missense Mutation | CAG,CGG | Q,R 50 | XP_006711490.1 | |
XM_011509711.2 | 720 | Missense Mutation | CAG,CGG | Q,R 50 | XP_011508013.1 |