Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ACCTCCTGCCAGTAGGGTCCCCCGC[A/G]GGTGAACATGAAGTAACTATACATC
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 |
---|---|---|
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 |
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 | 1058 | Missense Mutation | CGC,TGC | R,C 244 | NP_057097.2 | |
XM_006720555.2 | 1058 | Missense Mutation | CGC,TGC | R,C 244 | XP_006720618.1 | |
XM_011521658.1 | 1058 | Missense Mutation | CGC,TGC | R,C 244 | XP_011519960.1 | |
XM_011521659.2 | 1058 | Missense Mutation | CGC,TGC | R,C 244 | XP_011519961.1 | |
XM_017022293.1 | 1058 | Intron | XP_016877782.1 |