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CCGGGCGTGGAACGGGTCTGTTTCC[A/G]GGCTCGAATCCAGCCCTGGCACGGT
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 605810 | |||||||||||||||||||||||
Literature Links: |
MRPS22 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 - Not Available | African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR - Not Available | |||||
AMR - Not Available |
MRPS22 - mitochondrial ribosomal protein S22 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_020191.2 | 84 | Missense Mutation | CAG,CGG | Q,R 26 | NP_064576.1 | |
XM_005247640.2 | 84 | Missense Mutation | CAG,CGG | Q,R 26 | XP_005247697.1 | |
XM_006713703.3 | 84 | Missense Mutation | CAG,CGG | Q,R 26 | XP_006713766.1 | |
XM_011512995.2 | 84 | Intron | XP_011511297.1 | |||
XM_011512996.2 | 84 | Intron | XP_011511298.1 |