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AGACCATGGGAAAAGACTATTTGTC[A/T]TCAGACCTTCTAGATTCTATGACAG
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 603841 | |||||||||||||||||||||||
Literature Links: |
NDUFB5 PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
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 |
NDUFB5 - NADH:ubiquinone oxidoreductase subunit B5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199957.1 | 198 | Intron | NP_001186886.1 | |||
NM_001199958.1 | 198 | Missense Mutation | ATC,TTC | I,F 57 | NP_001186887.1 | |
NM_002492.3 | 198 | Missense Mutation | ATC,TTC | I,F 57 | NP_002483.1 |