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GTTGCGCGCCAAGCAGAACATGATC[C/T]GCCGCCTGGAGATCGAGGCGGAGAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611997 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MRPL57 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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MRPL57 - mitochondrial ribosomal protein L57 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_024026.4 | 233 | Missense Mutation | CGC,TGC | R,C 37 | NP_076931.1 | |
XM_017020740.1 | 233 | Missense Mutation | CGC,TGC | R,C 37 | XP_016876229.1 |
SKA3 - spindle and kinetochore associated complex subunit 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001166017.1 | 233 | Intron | NP_001159489.1 | |||
NM_145061.5 | 233 | Intron | NP_659498.4 | |||
XM_005266288.3 | 233 | Intron | XP_005266345.1 | |||
XM_011534994.1 | 233 | Intron | XP_011533296.1 |