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AATCCTGTCCTTCCTCCAAAAAAAA[C/T]ACCTAAGGAATTTATAATGAAATAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614130 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ADAD1 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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ADAD1 - adenosine deaminase domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001159285.1 | 498 | Missense Mutation | ACA,ATA | T,I 82 | NP_001152757.1 | |
NM_001159295.1 | 498 | Missense Mutation | ACA,ATA | T,I 64 | NP_001152767.1 | |
NM_139243.3 | 498 | Missense Mutation | ACA,ATA | T,I 82 | NP_640336.1 | |
XM_005262741.2 | 498 | Missense Mutation | ACA,ATA | T,I 82 | XP_005262798.1 | |
XM_005262743.2 | 498 | Missense Mutation | ACA,ATA | T,I 82 | XP_005262800.1 | |
XM_005262744.2 | 498 | Missense Mutation | ACA,ATA | T,I 82 | XP_005262801.1 | |
XM_005262745.2 | 498 | Missense Mutation | ACA,ATA | T,I 82 | XP_005262802.1 | |
XM_011531603.1 | 498 | Missense Mutation | ACA,ATA | T,I 82 | XP_011529905.1 |