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CTTGGGCCTGGCACTGTCTCCATCA[C/T]TCCTCCTTCAGCCACTGCAGCAGCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 125270 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ALAD 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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ALAD - aminolevulinate dehydratase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000031.5 | 1358 | Silent Mutation | GAA,GAG | E,E 330 | NP_000022.3 | |
NM_001003945.2 | 1358 | Silent Mutation | GAA,GAG | E,E 359 | NP_001003945.1 | |
NM_001317745.1 | 1358 | Silent Mutation | GAA,GAG | E,E 322 | NP_001304674.1 | |
XM_011518364.2 | 1358 | Silent Mutation | GAA,GAG | E,E 339 | XP_011516666.1 |