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GAGAATTTACGGAAGCAGGAGGAGT[C/T]CGTGCAGAAGCAGGAAGCCATGCGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
4 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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
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 | 782 | Missense Mutation | TCC,TTC | S,F 116 | NP_001304167.1 | |
NM_031921.5 | 782 | Missense Mutation | TCC,TTC | S,F 162 | NP_114127.3 | |
XM_005244806.3 | 782 | Missense Mutation | TCC,TTC | S,F 162 | XP_005244863.1 | |
XM_011542241.2 | 782 | Missense Mutation | TCC,TTC | S,F 162 | XP_011540543.1 | |
XM_011542243.2 | 782 | UTR 5 | XP_011540545.1 | |||
XM_011542244.1 | 782 | Missense Mutation | TCC,TTC | S,F 210 | XP_011540546.1 |