Product Details

SNP ID
rs797044797
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:6391481 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCGTGTGCCAATCCATTGTCCACC[C/T]CTTTGAGGATGACATGGTGGAGGTG
Phenotype
MIM: 602709 MIM: 607608
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
APBB1 PubMed Links

Gene Details

Gene
APBB1
Gene Name
amyloid beta precursor protein binding family B member 1
There are no transcripts associated with this gene.

Gene
SMPD1
Gene Name
sphingomyelin phosphodiesterase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000543.4 601 Missense Mutation CCC,CTC P139L NP_000534.3
NM_001007593.2 601 Missense Mutation CCC,CTC P138L NP_001007594.2
NM_001318087.1 601 Missense Mutation CCC,CTC P139L NP_001305016.1
NM_001318088.1 601 UTR 5 NP_001305017.1
XM_011520303.1 601 Missense Mutation CCC,CTC P139L XP_011518605.1
XM_011520304.1 601 Missense Mutation CCC,CTC P139L XP_011518606.1

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