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ATTACTTTATTTCCTCAGGCTGGAT[C/T]TCCAGAACTGTTCTCTGGAGGACCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 114010 MIM: 604024 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ATRAID 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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ATRAID - all-trans retinoic acid induced differentiation factor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001170795.1 | 567 | Missense Mutation | CTC,TTC | L,F 77 | NP_001164266.1 | |
NM_016085.4 | 567 | Missense Mutation | CTC,TTC | L,F 19 | NP_057169.2 | |
NM_080592.3 | 567 | Missense Mutation | CTC,TTC | L,F 132 | NP_542159.3 |
CAD - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | ||||||
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There are no transcripts associated with this gene. |
SLC5A6 - solute carrier family 5 member 6 | ||||||
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There are no transcripts associated with this gene. |