Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTGCGGCCAAGCAGAAAGTTGAACA[C/G]AACGCGGCTCCCAGCCACACCAAGT
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611851 MIM: 611977 | |||||||||||||||||||||||||||||||||||||||||
Literature Links: |
MRPL46 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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MRPL46 - mitochondrial ribosomal protein L46 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_022163.3 | 415 | Intron | NP_071446.2 |
MRPS11 - mitochondrial ribosomal protein S11 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001321970.1 | 415 | Missense Mutation | CAC,CAG | H,Q 50 | NP_001308899.1 | |
NM_001321972.1 | 415 | UTR 5 | NP_001308901.1 | |||
NM_001321973.1 | 415 | Missense Mutation | CAC,CAG | H,Q 50 | NP_001308902.1 | |
NM_001321974.1 | 415 | Missense Mutation | CAC,CAG | H,Q 51 | NP_001308903.1 | |
NM_001321976.1 | 415 | UTR 5 | NP_001308905.1 | |||
NM_022839.4 | 415 | Missense Mutation | CAC,CAG | H,Q 51 | NP_073750.2 | |
NM_176805.3 | 415 | Missense Mutation | CAC,CAG | H,Q 51 | NP_789775.1 |
Set Membership: |
HapMap |