Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AAAGGCTGCCTTTGATGAGCCACTC[C/T]TCATGGAGATGGTGAATTGCTTCCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 188250 | ||||||||||||||||||||
Literature Links: |
TK2 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 |
TK2 - thymidine kinase 2, mitochondrial | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001172643.1 | 776 | Silent Mutation | GAA,GAG | E,E 186 | NP_001166114.1 | |
NM_001172644.1 | 776 | Silent Mutation | GAA,GAG | E,E 192 | NP_001166115.1 | |
NM_001172645.1 | 776 | Silent Mutation | GAA,GAG | E,E 199 | NP_001166116.1 | |
NM_001271934.1 | 776 | Silent Mutation | GAA,GAG | E,E 168 | NP_001258863.1 | |
NM_001271935.1 | 776 | Missense Mutation | AAG,AGG | K,R 130 | NP_001258864.1 | |
NM_001272050.1 | 776 | Silent Mutation | GAA,GAG | E,E 120 | NP_001258979.1 | |
NM_004614.4 | 776 | Silent Mutation | GAA,GAG | E,E 217 | NP_004605.4 |