Product Details

SNP ID
rs200781693
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:113389034 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACGGCAGCCTTGAGATCAAATGCCC[C/T]GGCCTGGGCTCCATGCCACAGCATG
Phenotype
MIM: 125270
Polymorphism
C/T, 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 1242 Missense Mutation AGG,GGG R292G NP_000022.3
NM_001003945.2 1242 Missense Mutation AGG,GGG R321G NP_001003945.1
NM_001317745.1 1242 Missense Mutation AGG,GGG R284G NP_001304674.1
XM_011518364.2 1242 Missense Mutation AGG,GGG R301G XP_011516666.1

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