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AGTTGAGGTGTCAGCTCTTACATAG[C/T]AGTTGGTGATAAGGGCATCAGGATA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 137960 MIM: 606474 MIM: 600945 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MPV17 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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MPV17 - MPV17, mitochondrial inner membrane protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002437.4 | 612 | Missense Mutation | TAC,TGC | Y,C 135 | NP_002428.1 | |
XM_005264326.3 | 612 | Missense Mutation | TAC,TGC | Y,C 135 | XP_005264383.1 | |
XM_006712021.3 | 612 | Missense Mutation | TAC,TGC | Y,C 119 | XP_006712084.1 | |
XM_017004150.1 | 612 | Missense Mutation | TAC,TGC | Y,C 129 | XP_016859639.1 | |
XM_017004151.1 | 612 | Missense Mutation | TAC,TGC | Y,C 119 | XP_016859640.1 | |
XM_017004152.1 | 612 | Missense Mutation | TAC,TGC | Y,C 82 | XP_016859641.1 |
TRIM54 - tripartite motif containing 54 | ||||||
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There are no transcripts associated with this gene. |
UCN - urocortin | ||||||
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There are no transcripts associated with this gene. |