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AGCATACTCAGTAGTATTACCTTAA[C/T]ATCACGAACTTCATATGCTATCCTG
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604601 | |||||||||||||||||||||||||||||||||||||||||
Literature Links: |
LOC101929140 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)
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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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LOC101929140 - uncharacterized LOC101929140 | ||||||
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There are no transcripts associated with this gene. |
MTRF1 - mitochondrial translational release factor 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004294.2 | 1759 | Missense Mutation | ATT,GTT | I,V 407 | NP_004285.2 | |
XM_005266599.2 | 1759 | Missense Mutation | ATT,GTT | I,V 407 | XP_005266656.1 | |
XM_006719897.2 | 1759 | Missense Mutation | ATT,GTT | I,V 407 | XP_006719960.1 | |
XM_006719898.2 | 1759 | Missense Mutation | ATT,GTT | I,V 407 | XP_006719961.1 | |
XM_006719900.2 | 1759 | Missense Mutation | ATT,GTT | I,V 407 | XP_006719963.1 | |
XM_011535315.2 | 1759 | Missense Mutation | ATT,GTT | I,V 459 | XP_011533617.1 | |
XM_011535317.2 | 1759 | Missense Mutation | ATT,GTT | I,V 420 | XP_011533619.1 | |
XM_011535318.2 | 1759 | Missense Mutation | ATT,GTT | I,V 407 | XP_011533620.1 | |
XM_011535320.2 | 1759 | Missense Mutation | ATT,GTT | I,V 407 | XP_011533622.1 | |
XM_011535321.2 | 1759 | Missense Mutation | ATT,GTT | I,V 407 | XP_011533623.1 | |
XM_011535323.2 | 1759 | Missense Mutation | ATT,GTT | I,V 407 | XP_011533625.1 | |
XM_011535325.2 | 1759 | Missense Mutation | ATT,GTT | I,V 407 | XP_011533627.1 | |
XM_011535326.2 | 1759 | Intron | XP_011533628.1 | |||
XM_011535327.2 | 1759 | Intron | XP_011533629.1 | |||
XM_017020856.1 | 1759 | Missense Mutation | ATT,GTT | I,V 459 | XP_016876345.1 | |
XM_017020857.1 | 1759 | Missense Mutation | ATT,GTT | I,V 459 | XP_016876346.1 | |
XM_017020858.1 | 1759 | Missense Mutation | ATT,GTT | I,V 459 | XP_016876347.1 | |
XM_017020859.1 | 1759 | Missense Mutation | ATT,GTT | I,V 459 | XP_016876348.1 | |
XM_017020860.1 | 1759 | Missense Mutation | ATT,GTT | I,V 420 | XP_016876349.1 | |
XM_017020861.1 | 1759 | Missense Mutation | ATT,GTT | I,V 420 | XP_016876350.1 | |
XM_017020862.1 | 1759 | Missense Mutation | ATT,GTT | I,V 407 | XP_016876351.1 | |
XM_017020863.1 | 1759 | Missense Mutation | ATT,GTT | I,V 407 | XP_016876352.1 | |
XM_017020864.1 | 1759 | Missense Mutation | ATT,GTT | I,V 407 | XP_016876353.1 | |
XM_017020865.1 | 1759 | Missense Mutation | ATT,GTT | I,V 407 | XP_016876354.1 | |
XM_017020866.1 | 1759 | Missense Mutation | ATT,GTT | I,V 407 | XP_016876355.1 | |
XM_017020867.1 | 1759 | Missense Mutation | ATT,GTT | I,V 407 | XP_016876356.1 | |
XM_017020868.1 | 1759 | Missense Mutation | ATT,GTT | I,V 407 | XP_016876357.1 | |
XM_017020869.1 | 1759 | Missense Mutation | ATT,GTT | I,V 407 | XP_016876358.1 | |
XM_017020870.1 | 1759 | Missense Mutation | ATT,GTT | I,V 407 | XP_016876359.1 | |
XM_017020871.1 | 1759 | Missense Mutation | ATT,GTT | I,V 407 | XP_016876360.1 | |
XM_017020872.1 | 1759 | Intron | XP_016876361.1 | |||
XM_017020873.1 | 1759 | Missense Mutation | ATT,GTT | I,V 407 | XP_016876362.1 | |
XM_017020874.1 | 1759 | Missense Mutation | ATT,GTT | I,V 407 | XP_016876363.1 | |
XM_017020875.1 | 1759 | Missense Mutation | ATT,GTT | I,V 407 | XP_016876364.1 | |
XM_017020876.1 | 1759 | Missense Mutation | ATT,GTT | I,V 243 | XP_016876365.1 | |
XM_017020877.1 | 1759 | Missense Mutation | ATT,GTT | I,V 243 | XP_016876366.1 | |
XM_017020878.1 | 1759 | Intron | XP_016876367.1 | |||
XM_017020879.1 | 1759 | Intron | XP_016876368.1 |
Set Membership: |
HapMap |