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CACTTTCTGCCTCTGCTGCCATTGT[C/T]TCGGCGCCATTTCCAGCCTCTGCAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604692 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AKAP8 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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AKAP8 - A-kinase anchoring protein 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005858.3 | 2125 | Silent Mutation | GAA,GAG | E,E 654 | NP_005849.1 | |
XM_011527624.2 | 2125 | Silent Mutation | GAA,GAG | E,E 554 | XP_011525926.1 | |
XM_017026141.1 | 2125 | Silent Mutation | GAA,GAG | E,E 580 | XP_016881630.1 |