Product Details

SNP ID

hCV16201346

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:73143701 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGAACAGATCCTGTTAGCATAGGGT[A/G]AAAATGGAAACTACTTCTTTTAAAA

Phenotype

MIM: 104311

Polymorphism

A/G, 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

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