Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TAGGGCACTGCATCAGAGCATGGGG[A/G]ACAGAACAAAGAACCAGCCAAGAAG
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 | |||
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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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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 | 4057 | Missense Mutation | GAA,GGA | E,G 1316 | NP_001106849.1 | |
NM_018193.2 | 4057 | Missense Mutation | GAA,GGA | E,G 1256 | NP_060663.2 | |
XM_011521756.2 | 4057 | Missense Mutation | GAA,GGA | E,G 1316 | XP_011520058.1 | |
XM_011521757.2 | 4057 | Missense Mutation | GAA,GGA | E,G 1316 | XP_011520059.1 | |
XM_011521764.2 | 4057 | Missense Mutation | GAA,GGA | E,G 1256 | XP_011520066.1 | |
XM_011521767.2 | 4057 | Missense Mutation | GAA,GGA | E,G 1223 | 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 | 4057 | UTR 3 | NP_001119603.1 | |||
NM_002693.2 | 4057 | UTR 3 | NP_002684.1 |