Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611360 MIM: 174763 | ||||||||||||||||||||
Literature Links: |
FANCI 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 |
FANCI - Fanconi anemia complementation group I | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001113378.1 | 4088 | Silent Mutation | AGA,AGG | R,R 1326 | NP_001106849.1 | |
NM_018193.2 | 4088 | Silent Mutation | AGA,AGG | R,R 1266 | NP_060663.2 | |
XM_011521756.2 | 4088 | Silent Mutation | AGA,AGG | R,R 1326 | XP_011520058.1 | |
XM_011521757.2 | 4088 | Silent Mutation | AGA,AGG | R,R 1326 | XP_011520059.1 | |
XM_011521764.2 | 4088 | Silent Mutation | AGA,AGG | R,R 1266 | XP_011520066.1 | |
XM_011521767.2 | 4088 | Silent Mutation | AGA,AGG | R,R 1233 | XP_011520069.1 |
POLG - DNA polymerase gamma, catalytic subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001126131.1 | 4088 | UTR 3 | NP_001119603.1 | |||
NM_002693.2 | 4088 | UTR 3 | NP_002684.1 |