Product Details

SNP ID
rs143719170
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:6391513 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGATGACATGGTGGAGGTGTGGAGA[C/T]GCTCAGTGCTGAGCCCATCTGAGGC
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_000543.4 633 Missense Mutation CGC,TGC R150C NP_000534.3
NM_001007593.2 633 Missense Mutation CGC,TGC R149C NP_001007594.2
NM_001318087.1 633 Missense Mutation CGC,TGC R150C NP_001305016.1
NM_001318088.1 633 UTR 5 NP_001305017.1
XM_011520303.1 633 Missense Mutation CGC,TGC R150C XP_011518605.1
XM_011520304.1 633 Missense Mutation CGC,TGC R150C XP_011518606.1

View Full Product Details