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TTAGATGCACCACCCCGATGATCAG[A/G]GAGGGATTCAGTACTATCTGCTGCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614888 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AAGAB 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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AAGAB - alpha- and gamma-adaptin binding protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001271885.1 | 1013 | Missense Mutation | CCT,TCT | P,S 111 | NP_001258814.1 | |
NM_001271886.1 | 1013 | Missense Mutation | CCT,TCT | P,S 111 | NP_001258815.1 | |
NM_024666.4 | 1013 | Missense Mutation | CCT,TCT | P,S 220 | NP_078942.3 | |
XM_011522020.1 | 1013 | Missense Mutation | CCT,TCT | P,S 111 | XP_011520322.1 |