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ACCGAGAACCCGGAGCAGGTGGCGA[A/G]CGAGGGTAAGGCAACCGGGGTGGCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611823 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MRPL4 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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MRPL4 - mitochondrial ribosomal protein L4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015956.2 | 273 | Missense Mutation | AAC,AGC | N,S 40 | NP_057040.2 | |
NM_146387.1 | 273 | Missense Mutation | AAC,AGC | N,S 40 | NP_666499.1 | |
NM_146388.1 | 273 | Missense Mutation | AAC,AGC | N,S 40 | NP_666500.1 | |
XM_011528045.2 | 273 | Missense Mutation | AAC,AGC | N,S 40 | XP_011526347.1 |