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ACGGGGGGCCTGGGCCTCACTCAAA[C/T]GTCTTGTAACACGCAGGAAAAGGTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604688 MIM: 172460 MIM: 194541 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AKAP5 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
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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AKAP5 - A-kinase anchoring protein 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004857.3 | 628 | Missense Mutation | CGT,TGT | R,C 84 | NP_004848.3 |
MTHFD1 - methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 | ||||||
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There are no transcripts associated with this gene. |
ZBTB25 - zinc finger and BTB domain containing 25 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001304507.1 | 628 | Intron | NP_001291436.1 | |||
NM_001304508.1 | 628 | Intron | NP_001291437.1 | |||
NM_006977.3 | 628 | Intron | NP_008908.2 | |||
XM_005268051.3 | 628 | Intron | XP_005268108.1 | |||
XM_006720250.3 | 628 | Intron | XP_006720313.1 | |||
XM_006720251.3 | 628 | Intron | XP_006720314.1 | |||
XM_006720252.3 | 628 | Intron | XP_006720315.1 | |||
XM_011537139.1 | 628 | Intron | XP_011535441.1 | |||
XM_011537141.2 | 628 | Intron | XP_011535443.1 | |||
XM_011537143.2 | 628 | Intron | XP_011535445.1 | |||
XM_011537146.2 | 628 | Intron | XP_011535448.1 | |||
XM_017021630.1 | 628 | Intron | XP_016877119.1 | |||
XM_017021631.1 | 628 | Intron | XP_016877120.1 | |||
XM_017021632.1 | 628 | Intron | XP_016877121.1 | |||
XM_017021633.1 | 628 | Intron | XP_016877122.1 | |||
XM_017021634.1 | 628 | Intron | XP_016877123.1 | |||
XM_017021635.1 | 628 | Intron | XP_016877124.1 | |||
XM_017021636.1 | 628 | Intron | XP_016877125.1 | |||
XM_017021637.1 | 628 | Intron | XP_016877126.1 | |||
XM_017021638.1 | 628 | Intron | XP_016877127.1 |