Product Details

SNP ID

rs4383672

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.4:56444411 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACTATAATTACATTAAGTGTAATA[A/C]TAGTATATGAAGAACGGTACTACAG

Phenotype

MIM: 172439 MIM: 172450

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

PAICS PubMed Links

Additional Information

For this assay, SNP(s) [rs116046946] are located under a probe 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

PAICS

Gene Name

phosphoribosylaminoimidazole carboxylase; phosphoribosylaminoimidazolesuccinocarboxamide synthase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001079524.1		Intron			NP_001072992.1
NM_001079525.1		Intron			NP_001072993.1
NM_006452.3		Intron			NP_006443.1
XM_011534366.1		Intron			XP_011532668.1

Gene

PPAT

Gene Name

phosphoribosyl pyrophosphate amidotransferase

There are no transcripts associated with this gene.

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