Product Details

SNP ID

rs115304948

Assay Type

Functionally tested

NCBI dbSNP Submissions

17

Location

Chr.1:226878881 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTTGAGAAAATGCAGCAACTCTT[C/T]GTTGTGGTGCCCCTCTTTGAGTAAG

Phenotype

MIM: 600759

Polymorphism

C/T, 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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