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GGAGGCCCGCCTGGCTCGCAGGTTG[C/T]GGGATGCGCTGCGGGAGGAGGAGCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612766 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ANKLE1 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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ANKLE1 - ankyrin repeat and LEM domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001278443.1 | 310 | Intron | NP_001265372.1 | |||
NM_001278444.1 | 310 | Missense Mutation | CGG,TGG | R,W 66 | NP_001265373.1 | |
NM_001278445.1 | 310 | Silent Mutation | TGC,TGT | C,C 35 | NP_001265374.1 | |
NM_152363.5 | 310 | Missense Mutation | CGG,TGG | R,W 66 | NP_689576.5 |
BABAM1 - BRISC and BRCA1 A complex member 1 | ||||||
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There are no transcripts associated with this gene. |