Product Details

SNP ID

rs2073488

Assay Type

Functionally Tested

NCBI dbSNP Submissions

35

Location

Chr.1:226875130 on Build GRCh38

Set Membership

JSNP

Context Sequence [VIC/FAM]

AGAGGGCCCCTGGGGCCTGTGGTCC[A/G]GGAGGGTGGTAGGGCAGTACCTCAC

Phenotype

MIM: 600759

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

PSEN2 PubMed Links

Additional Information

For this assay, SNP(s) [rs114815412] 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

PSEN2

Gene Name

presenilin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000447.2		Intron			NP_000438.2
NM_012486.2		Intron			NP_036618.2
XM_005273199.3		Intron			XP_005273256.1
XM_017001835.1		Intron			XP_016857324.1
XM_017001836.1		Intron			XP_016857325.1

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