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CTTTTCAAAATAAGAGCTTTTGTGT[C/T]TTGTACAATGCCGCTGCCACCTCCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 117143 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CENPE 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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CENPE - centromere protein E | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286734.1 | 7705 | Missense Mutation | AAC,GAC | N,D 2418 | NP_001273663.1 | |
NM_001813.2 | 7705 | Missense Mutation | AAC,GAC | N,D 2539 | NP_001804.2 | |
XM_011531544.2 | 7705 | Missense Mutation | AAC,GAC | N,D 2514 | XP_011529846.1 | |
XM_011531545.2 | 7705 | Missense Mutation | AAC,GAC | N,D 2486 | XP_011529847.1 | |
XM_011531546.2 | 7705 | Missense Mutation | AAC,GAC | N,D 2471 | XP_011529848.1 | |
XM_011531547.2 | 7705 | Missense Mutation | AAC,GAC | N,D 2443 | XP_011529849.1 | |
XM_011531548.2 | 7705 | Missense Mutation | AAC,GAC | N,D 2442 | XP_011529850.1 | |
XM_011531549.2 | 7705 | Missense Mutation | AAC,GAC | N,D 2391 | XP_011529851.1 | |
XM_017007659.1 | 7705 | Missense Mutation | AAC,GAC | N,D 2389 | XP_016863148.1 |