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CATTTTTCTTGCCAGATTTAGTTCA[C/T]GTTCAGCCTGTTAATACAAATTTTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601677 | ||||||||||||||||||||
Literature Links: |
IQUB PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | 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 |
IQUB - IQ motif and ubiquitin domain containing | ||||||
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There are no transcripts associated with this gene. |
NDUFA5 - NADH:ubiquinone oxidoreductase subunit A5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282419.2 | 560 | Missense Mutation | CAT,CGT | H,R 71 | NP_001269348.1 | |
NM_001282420.2 | 560 | Missense Mutation | CAT,CGT | H,R 86 | NP_001269349.1 | |
NM_001282421.2 | 560 | Missense Mutation | CAT,CGT | H,R 83 | NP_001269350.1 | |
NM_001282422.2 | 560 | Missense Mutation | CAT,CGT | H,R 47 | NP_001269351.1 | |
NM_001291304.1 | 560 | Missense Mutation | CAT,CGT | H,R 152 | NP_001278233.1 | |
NM_005000.4 | 560 | Missense Mutation | CAT,CGT | H,R 86 | NP_004991.1 |