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ACATCGCCATAGCAACAAGGAACAC[C/T]AAGAAGAACCGCAGCCTGTACAGGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
8 submissions
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Phenotype: |
MIM: 612316 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ATAD3A 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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ATAD3A - ATPase family, AAA domain containing 3A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001170535.1 | 1284 | Silent Mutation | ACC,ACT | T,T 338 | NP_001164006.1 | |
NM_001170536.1 | 1284 | Silent Mutation | ACC,ACT | T,T 259 | NP_001164007.1 | |
NM_018188.3 | 1284 | Silent Mutation | ACC,ACT | T,T 386 | NP_060658.3 | |
XM_017001628.1 | 1284 | Silent Mutation | ACC,ACT | T,T 338 | XP_016857117.1 |