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TCTGGAAGCACTGCTCTCTGTCAGT[A/G]ATACAGCTTCCAAGGTGTTCTTGAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611981 MIM: 612648 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MRPS18A 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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MRPS18A - mitochondrial ribosomal protein S18A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001193343.1 | 619 | UTR 3 | NP_001180272.1 | |||
NM_018135.3 | 619 | Missense Mutation | CAC,TAC | H,Y 196 | NP_060605.1 | |
XM_006715134.2 | 619 | Missense Mutation | CAC,TAC | H,Y 270 | XP_006715197.1 |
RSPH9 - radial spoke head 9 homolog | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001193341.1 | 619 | Intron | NP_001180270.1 | |||
NM_152732.4 | 619 | Intron | NP_689945.2 | |||
XM_005248901.3 | 619 | Intron | XP_005248958.1 | |||
XM_006715014.1 | 619 | Intron | XP_006715077.1 | |||
XM_017010426.1 | 619 | Intron | XP_016865915.1 |