Product Details

SNP ID
rs200598249
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:73148090 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGTCTGAGGACAACCACCTGAGCA[A/C]TACTGTACGTAGCCAGGTACAGTGT
Phenotype
MIM: 104311
Polymorphism
A/C, Transversion 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_000021.3 247 Missense Mutation AAT,ACT N24T NP_000012.1
NM_007318.2 247 Missense Mutation AAT,ACT N24T NP_015557.2
XM_005267864.2 247 Missense Mutation AAT,ACT N24T XP_005267921.1
XM_005267866.1 247 Missense Mutation AAT,ACT N24T XP_005267923.1
XM_011536971.2 247 Missense Mutation AAT,ACT N24T XP_011535273.1
XM_011536972.2 247 Missense Mutation AAT,ACT N24T XP_011535274.1
XM_011536973.1 247 Missense Mutation AAT,ACT N24T XP_011535275.1
XM_011536974.1 247 Missense Mutation AAT,ACT N24T XP_011535276.1

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