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AACAGAATAGACCGATTATACCTAC[C/T]TTCTTTCCACAGACTGCTTTTCTTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604986 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BRAP 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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BRAP - BRCA1 associated protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006768.4 | 1410 | Missense Mutation | AAG,AGG | K,R 472 | NP_006759.3 | |
XM_005253944.4 | 1410 | Missense Mutation | AAG,AGG | K,R 513 | XP_005254001.1 | |
XM_011538789.2 | 1410 | Missense Mutation | AAG,AGG | K,R 185 | XP_011537091.1 | |
XM_017019992.1 | 1410 | Missense Mutation | AAG,AGG | K,R 418 | XP_016875481.1 | |
XM_017019993.1 | 1410 | Missense Mutation | AAG,AGG | K,R 323 | XP_016875482.1 | |
XM_017019994.1 | 1410 | Missense Mutation | AAG,AGG | K,R 323 | XP_016875483.1 | |
XM_017019995.1 | 1410 | Missense Mutation | AAG,AGG | K,R 323 | XP_016875484.1 |