Product Details

SNP ID

rs732479

Assay Type

Validated

NCBI dbSNP Submissions

29

Location

Chr.1:226877777 on Build GRCh38

Set Membership

HapMap JSNP Validated

Context Sequence [VIC/FAM]

ACACTTGTTTTCTGGTGAGGAGGCC[G/A]CATGTATGAATGACGTTTGTGGGTT

Phenotype

MIM: 600759

Polymorphism

G/A, Transition substitution

Allele Nomenclature

Literature Links

PSEN2 PubMed Links

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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