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TTCCAGATCAAATTTTCTCCGGTGG[C/G]TAAAAAGTTGTTTGTGGTAACTGCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 616773 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MIGA1 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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MIGA1 - mitoguardin 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001270384.1 | 217 | Missense Mutation | GCT,GGT | A,G 72 | NP_001257313.1 | |
NM_198549.3 | 217 | Missense Mutation | GCT,GGT | A,G 72 | NP_940951.1 | |
XM_005270846.4 | 217 | Missense Mutation | GCT,GGT | A,G 72 | XP_005270903.1 | |
XM_005270847.4 | 217 | Missense Mutation | GCT,GGT | A,G 40 | XP_005270904.1 | |
XM_005270848.4 | 217 | Missense Mutation | GCT,GGT | A,G 40 | XP_005270905.1 | |
XM_011541422.2 | 217 | Missense Mutation | GCT,GGT | A,G 40 | XP_011539724.1 | |
XM_017001227.1 | 217 | Missense Mutation | GCT,GGT | A,G 40 | XP_016856716.1 | |
XM_017001228.1 | 217 | Missense Mutation | GCT,GGT | A,G 40 | XP_016856717.1 | |
XM_017001229.1 | 217 | Missense Mutation | GCT,GGT | A,G 40 | XP_016856718.1 | |
XM_017001230.1 | 217 | Missense Mutation | GCT,GGT | A,G 40 | XP_016856719.1 | |
XM_017001231.1 | 217 | Missense Mutation | GCT,GGT | A,G 72 | XP_016856720.1 | |
XM_017001232.1 | 217 | Missense Mutation | GCT,GGT | A,G 40 | XP_016856721.1 |