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AGCCAAGAATGCCACGCTTGTCGCC[A/G]GCCGCTTCATCGAGGCTCGGCTGGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
2 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 |
---|---|---|
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 |
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 | 1084 | Missense Mutation | AGC,GGC | S,G 272 | NP_001164006.1 | |
NM_001170536.1 | 1084 | Missense Mutation | AGC,GGC | S,G 193 | NP_001164007.1 | |
NM_018188.3 | 1084 | Missense Mutation | AGC,GGC | S,G 320 | NP_060658.3 | |
XM_017001628.1 | 1084 | Missense Mutation | AGC,GGC | S,G 272 | XP_016857117.1 |