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CCACTTCGACCTGCCGCAGCAGGAG[G/T]AGCGGGAGCGCCTGGTGAGACTGCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 612317 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ATAD3B 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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ATAD3B - ATPase family, AAA domain containing 3B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001317238.1 | 1735 | Nonsense Mutation | GAG,TAG | E,* 434 | NP_001304167.1 | |
NM_031921.5 | 1735 | Nonsense Mutation | GAG,TAG | E,* 480 | NP_114127.3 | |
XM_005244806.3 | 1735 | Nonsense Mutation | GAG,TAG | E,* 480 | XP_005244863.1 | |
XM_011542241.2 | 1735 | Intron | XP_011540543.1 | |||
XM_011542243.2 | 1735 | Nonsense Mutation | GAG,TAG | E,* 312 | XP_011540545.1 | |
XM_011542244.1 | 1735 | Nonsense Mutation | GAG,TAG | E,* 528 | XP_011540546.1 |