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ATAGGTTTCTTCTTTGGAAATGTCA[A/G]TAGGTACTTCCCAGTTGAAAGATCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300515 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
FANCB 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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FANCB - Fanconi anemia complementation group B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001018113.2 | 2253 | Silent Mutation | CTG,TTG | L,L 634 | NP_001018123.1 | |
NM_001324162.1 | 2253 | Silent Mutation | CTG,TTG | L,L 634 | NP_001311091.1 | |
NM_152633.3 | 2253 | Silent Mutation | CTG,TTG | L,L 634 | NP_689846.1 | |
XM_011545470.2 | 2253 | Silent Mutation | CTG,TTG | L,L 634 | XP_011543772.1 | |
XM_017029355.1 | 2253 | Silent Mutation | CTG,TTG | L,L 634 | XP_016884844.1 | |
XM_017029356.1 | 2253 | Silent Mutation | CTG,TTG | L,L 634 | XP_016884845.1 |