Product Details

SNP ID
rs1062466
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.4:56394100 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAACAAACACTTTTATGTTTAAAA[T/A]TTCTTACATAAACAAAGGTTTGGGG
Phenotype
MIM: 614365 MIM: 172450
Polymorphism
T/A, Transversion Substitution
Allele Nomenclature
Literature Links
AASDH PubMed Links
Additional Information
For this assay, SNP(s) [rs1042040] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene
AASDH
Gene Name
aminoadipate-semialdehyde dehydrogenase
There are no transcripts associated with this gene.

Gene
PPAT
Gene Name
phosphoribosyl pyrophosphate amidotransferase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002703.4 Intron NP_002694.3
XM_011534387.1 Intron XP_011532689.1

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