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CATCGTGTGGCTCCAACATGTACTT[A/C]CCTTCTTGGTTAAGTCAGCTGTACA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
3 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 | |||
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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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CENPL - centromere protein L | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001127181.2 | 580 | Intron | NP_001120653.1 | |||
NM_001171182.1 | 580 | Intron | NP_001164653.1 | |||
NM_033319.3 | 580 | Intron | NP_201576.1 |
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 | 580 | Missense Mutation | TTA,TTC | L,F 3 | NP_060592.2 | |
XM_006711427.3 | 580 | Missense Mutation | TTA,TTC | L,F 3 | XP_006711490.1 | |
XM_011509711.2 | 580 | Missense Mutation | TTA,TTC | L,F 3 | XP_011508013.1 |