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CCGTTGGGTCGCGGTTTCCTTCACC[A/G]AGCAGCAATTTCCGTTGGCACGGTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613973 MIM: 614667 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MB21D1 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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MB21D1 - Mab-21 domain containing 1 | ||||||
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There are no transcripts associated with this gene. |
MTO1 - mitochondrial tRNA translation optimization 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001123226.1 | 173 | Missense Mutation | AAG,GAG | K,E 17 | NP_001116698.1 | |
NM_012123.3 | 173 | Missense Mutation | AAG,GAG | K,E 17 | NP_036255.2 | |
NM_133645.2 | 173 | Missense Mutation | AAG,GAG | K,E 17 | NP_598400.1 | |
XM_006715444.2 | 173 | Intron | XP_006715507.1 | |||
XM_006715445.2 | 173 | Intron | XP_006715508.1 | |||
XM_006715446.3 | 173 | Missense Mutation | AAG,GAG | K,E 17 | XP_006715509.1 | |
XM_011535723.1 | 173 | UTR 5 | XP_011534025.1 | |||
XM_011535724.1 | 173 | Intron | XP_011534026.1 | |||
XM_011535725.2 | 173 | Intron | XP_011534027.1 | |||
XM_017010697.1 | 173 | Intron | XP_016866186.1 | |||
XM_017010698.1 | 173 | UTR 5 | XP_016866187.1 | |||
XM_017010699.1 | 173 | Intron | XP_016866188.1 | |||
XM_017010700.1 | 173 | UTR 5 | XP_016866189.1 |