Product Details

SNP ID

rs200214809

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.4:56469664 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAATTGTTCTCTAGTACTACAGATC[A/C]ACAAAGATGACGTAACTGCCCTGCA

Phenotype

MIM: 172439 MIM: 602122

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

PAICS PubMed Links

Additional Information

For this assay, SNP(s) [rs112496764] 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

PAICS

Gene Name

phosphoribosylaminoimidazole carboxylase; phosphoribosylaminoimidazolesuccinocarboxamide synthase

There are no transcripts associated with this gene.

Gene

SRP72

Gene Name

signal recognition particle 72

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001267722.1	161	Missense Mutation	AAC,CAC	N41H	NP_001254651.1
NM_006947.3	161	Missense Mutation	AAC,CAC	N41H	NP_008878.3
XM_005265765.4	161	Missense Mutation	AAC,CAC	N156H	XP_005265822.3

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