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CTTTCTTCTGTTTTACAGATCGCTT[C/G]ACAATATCTTATTGTCGGAGTAGTG
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603000 | |||||||||||||||||||||||||||||||||||||||||
Literature Links: |
MRPL58 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)
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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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MRPL58 - mitochondrial ribosomal protein L58 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001303265.1 | 247 | Missense Mutation | TTC,TTG | F,L 77 | NP_001290194.1 | |
NM_001545.2 | 247 | Missense Mutation | TTC,TTG | F,L 77 | NP_001536.1 | |
XM_017024574.1 | 247 | Missense Mutation | TTC,TTG | F,L 17 | XP_016880063.1 |
Set Membership: |
HapMap |