Product Details

SNP ID
rs200321315
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:63279186 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCTTTCTTCTGGTTGGTGTCTCTA[C/G]TGATTTCGTCCCTTGTTTGGTTCAT
Phenotype
MIM: 607630
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
APH1B PubMed Links

Gene Details

Gene
APH1B
Gene Name
aph-1 homolog B, gamma-secretase subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145646.1 244 Missense Mutation CTG,GTG L47V NP_001139118.1
NM_031301.3 244 Missense Mutation CTG,GTG L47V NP_112591.2
XM_011522105.2 244 Missense Mutation CTG,GTG L47V XP_011520407.1

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