Product Details

SNP ID

rs4498466

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.7:105458959 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATACTCCATCACCTAATATCACAA[C/T]CATCTATAACATGCACTTATTTTCA

Phenotype

MIM: 616261

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

PUS7 PubMed Links

Additional Information

For this assay, SNP(s) [rs114991285] 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

PUS7

Gene Name

pseudouridylate synthase 7 (putative)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318163.1		Intron			NP_001305092.1
NM_001318164.1		Intron			NP_001305093.1
NM_019042.4		Intron			NP_061915.2

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