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ACGCCCACCCATCTCTACAACAAGG[C/T]GGCCAGCCTTCACAGGTGTCACGTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611829 MIM: 600876 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MRPL16 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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MRPL16 - mitochondrial ribosomal protein L16 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_017840.3 | 687 | Missense Mutation | CAC,CGC | H,R 158 | NP_060310.1 |
STX3 - syntaxin 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001178040.1 | 687 | Intron | NP_001171511.1 | |||
NM_004177.4 | 687 | Intron | NP_004168.1 | |||
XM_005274195.3 | 687 | Intron | XP_005274252.1 | |||
XM_005274198.2 | 687 | Intron | XP_005274255.1 | |||
XM_005274200.3 | 687 | Intron | XP_005274257.1 | |||
XM_011545221.2 | 687 | Intron | XP_011543523.1 | |||
XM_017018188.1 | 687 | Intron | XP_016873677.1 | |||
XM_017018189.1 | 687 | Intron | XP_016873678.1 | |||
XM_017018190.1 | 687 | Intron | XP_016873679.1 | |||
XM_017018191.1 | 687 | Intron | XP_016873680.1 | |||
XM_017018192.1 | 687 | Intron | XP_016873681.1 | |||
XM_017018193.1 | 687 | Intron | XP_016873682.1 | |||
XM_017018194.1 | 687 | Intron | XP_016873683.1 | |||
XM_017018195.1 | 687 | Intron | XP_016873684.1 | |||
XM_017018196.1 | 687 | Intron | XP_016873685.1 |