Product Details

SNP ID

rs12586604

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:73146946 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CAGGCAAATGGGAATGTGGCCCCCC[C/T]AGGAGGGTGAACTCTGAGAGACACA

Phenotype

MIM: 104311

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PSEN1 PubMed Links

Gene Details

Gene

PSEN1

Gene Name

presenilin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000021.3		Intron			NP_000012.1
NM_007318.2		Intron			NP_015557.2
XM_005267864.2		Intron			XP_005267921.1
XM_005267866.1		Intron			XP_005267923.1
XM_011536971.2		Intron			XP_011535273.1
XM_011536972.2		Intron			XP_011535274.1
XM_011536973.1		Intron			XP_011535275.1
XM_011536974.1		Intron			XP_011535276.1

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