Product Details

SNP ID
rs201859063
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:113389021 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATGGCCTCCAGTACGGCAGCCTTG[A/G]GATCAAATGCCCCGGCCTGGGCTCC
Phenotype
MIM: 125270
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ALAD PubMed Links

Gene Details

Gene
ALAD
Gene Name
aminolevulinate dehydratase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000031.5 1255 Missense Mutation CCC,CTC P296L NP_000022.3
NM_001003945.2 1255 Missense Mutation CCC,CTC P325L NP_001003945.1
NM_001317745.1 1255 Missense Mutation CCC,CTC P288L NP_001304674.1
XM_011518364.2 1255 Missense Mutation CCC,CTC P305L XP_011516666.1

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