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GGAAAGTGGGCTCCTCTCTGTGCTG[C/T]AGATTGCCCAGCAGGACCTAGCCCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613976 | ||||||||||||||||||||
Literature Links: |
FANCE 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 |
FANCE - Fanconi anemia complementation group E | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_021922.2 | 562 | Nonsense Mutation | CAG,TAG | Q,* 119 | NP_068741.1 | |
XM_005248885.2 | 562 | Nonsense Mutation | CAG,TAG | Q,* 119 | XP_005248942.1 | |
XM_005248886.2 | 562 | Nonsense Mutation | CAG,TAG | Q,* 119 | XP_005248943.1 | |
XM_005248887.2 | 562 | Nonsense Mutation | CAG,TAG | Q,* 119 | XP_005248944.1 | |
XM_005248888.3 | 562 | Nonsense Mutation | CAG,TAG | Q,* 119 | XP_005248945.1 | |
XM_011514343.2 | 562 | Nonsense Mutation | CAG,TAG | Q,* 21 | XP_011512645.1 |