Product Details

SNP ID
rs200607063
Assay Type
Functionally tested
NCBI dbSNP Submissions
8
Location
Chr.1:226875489 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCAGGGAGCATCATTCATTTAGCC[T/C]GCTGAGAAGAAGAAACCAAGTGTCC
Phenotype
MIM: 600759
Polymorphism
T/C, 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_000447.2 159 UTR 5 NP_000438.2
NM_012486.2 159 UTR 5 NP_036618.2
XM_005273199.3 159 UTR 5 XP_005273256.1
XM_017001835.1 159 UTR 5 XP_016857324.1
XM_017001836.1 159 UTR 5 XP_016857325.1

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