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AGTGGCTGTGTCAGCCTCACCCTTC[G/A]TGTGCACCCGCATGGGAGGGTCGGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607139 MIM: 608460 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
FANCA 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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FANCA - Fanconi anemia complementation group A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000135.2 | 4700 | UTR 3 | NP_000126.2 | |||
NM_001018112.1 | 4700 | Intron | NP_001018122.1 | |||
NM_001286167.1 | 4700 | UTR 3 | NP_001273096.1 | |||
XM_005256294.4 | 4700 | Intron | XP_005256351.1 | |||
XM_011522945.2 | 4700 | Intron | XP_011521247.1 | |||
XM_011522946.2 | 4700 | Intron | XP_011521248.1 | |||
XM_011522947.2 | 4700 | Intron | XP_011521249.1 | |||
XM_011522948.2 | 4700 | Intron | XP_011521250.1 | |||
XM_017023044.1 | 4700 | Intron | XP_016878533.1 | |||
XM_017023045.1 | 4700 | Intron | XP_016878534.1 | |||
XM_017023046.1 | 4700 | Intron | XP_016878535.1 |
ZNF276 - zinc finger protein 276 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001113525.1 | 4700 | UTR 3 | NP_001106997.1 | |||
NM_152287.3 | 4700 | UTR 3 | NP_689500.2 | |||
XM_005256324.3 | 4700 | UTR 3 | XP_005256381.1 | |||
XM_005256328.3 | 4700 | UTR 3 | XP_005256385.1 | |||
XM_017023889.1 | 4700 | Intron | XP_016879378.1 | |||
XM_017023890.1 | 4700 | UTR 3 | XP_016879379.1 |