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TGTTACCTTGACCTCCTGCCAGTAG[A/G]GTCCCCCGCGGGTGAACATGAAGTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606934 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NDUFAF1 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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NDUFAF1 - NADH:ubiquinone oxidoreductase complex assembly factor 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_016013.3 | 1068 | Missense Mutation | CCC,CTC | P,L 247 | NP_057097.2 | |
XM_006720555.2 | 1068 | Missense Mutation | CCC,CTC | P,L 247 | XP_006720618.1 | |
XM_011521658.1 | 1068 | Missense Mutation | CCC,CTC | P,L 247 | XP_011519960.1 | |
XM_011521659.2 | 1068 | Missense Mutation | CCC,CTC | P,L 247 | XP_011519961.1 | |
XM_017022293.1 | 1068 | Intron | XP_016877782.1 |