Product Details

SNP ID

rs144465428

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:6390654 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTGCCCCAGGTCCGGCCGGGAGC[A/G]GGGACAAGACGGGACCGCCGGAGCC

Phenotype

MIM: 602709 MIM: 607608

Polymorphism

A/G, 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	241	Missense Mutation	CAG,CGG	Q19R	NP_000534.3
NM_001007593.2	241	Missense Mutation	CAG,CGG	Q19R	NP_001007594.2
NM_001318087.1	241	Missense Mutation	CAG,CGG	Q19R	NP_001305016.1
NM_001318088.1	241	UTR 5			NP_001305017.1
XM_011520303.1	241	Missense Mutation	CAG,CGG	Q19R	XP_011518605.1
XM_011520304.1	241	Missense Mutation	CAG,CGG	Q19R	XP_011518606.1

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