Product Details

SNP ID

rs5749132

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.22:30609031 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGCCTTCCTCCTCGGTGTAGTAC[A/G]AGGAAGGATCCCATGACACCTGCTC

Phenotype

MIM: 605819 MIM: 613441

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

PES1 PubMed Links

Additional Information

For this assay, SNP(s) [rs117324970] 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

PES1

Gene Name

pescadillo ribosomal biogenesis factor 1

There are no transcripts associated with this gene.

Gene

TCN2

Gene Name

transcobalamin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000355.3		Intron			NP_000346.2
NM_001184726.1		Intron			NP_001171655.1

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