Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTCCTTCAGCCACTGCAGCAGCTGC[A/G]GTGTGTAGTAGGTGATGATGATGTC
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 |
---|---|---|
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 |
ALAD - aminolevulinate dehydratase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000031.5 | 1330 | Missense Mutation | CCG,CTG | P,L 321 | NP_000022.3 | |
NM_001003945.2 | 1330 | Missense Mutation | CCG,CTG | P,L 350 | NP_001003945.1 | |
NM_001317745.1 | 1330 | Missense Mutation | CCG,CTG | P,L 313 | NP_001304674.1 | |
XM_011518364.2 | 1330 | Missense Mutation | CCG,CTG | P,L 330 | XP_011516666.1 |