Product Details

SNP ID

rs200270654

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:6395934 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACGGCCAGGAAGGAGAGGAAACGC[A/C]CCCGACACTCTCCCAGCACTGCCTC

Phenotype

MIM: 602709 MIM: 607608

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

APBB1 PubMed Links

Gene Details

Gene

APBB1

Gene Name

amyloid beta precursor protein binding family B member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001164.4	1421	Missense Mutation	GGG,GTG	G606V	NP_001155.1
NM_001257319.2	1421	Missense Mutation	GGG,GTG	G386V	NP_001244248.1
NM_001257320.2	1421	Missense Mutation	GGG,GTG	G347V	NP_001244249.1
NM_001257321.2	1421	Missense Mutation	GGG,GTG	G347V	NP_001244250.1
NM_001257323.2	1421	Missense Mutation	GGG,GTG	G384V	NP_001244252.1
NM_001257325.2	1421	Missense Mutation	GGG,GTG	G371V	NP_001244254.1
NM_001257326.2	1421	Missense Mutation	GGG,GTG	G347V	NP_001244255.1
NM_145689.2	1421	Missense Mutation	GGG,GTG	G604V	NP_663722.1
XM_006718209.3	1421	Missense Mutation	GGG,GTG	G707V	XP_006718272.2
XM_006718210.3	1421	Missense Mutation	GGG,GTG	G702V	XP_006718273.2
XM_006718211.1	1421	Missense Mutation	GGG,GTG	G707V	XP_006718274.1
XM_006718212.3	1421	Missense Mutation	GGG,GTG	G611V	XP_006718275.2
XM_006718213.1	1421	Missense Mutation	GGG,GTG	G702V	XP_006718276.1
XM_006718214.3	1421	Missense Mutation	GGG,GTG	G609V	XP_006718277.2
XM_006718215.3	1421	Missense Mutation	GGG,GTG	G698V	XP_006718278.3
XM_011520037.2	1421	Missense Mutation	GGG,GTG	G443V	XP_011518339.1
XM_011520038.2	1421	Missense Mutation	GGG,GTG	G443V	XP_011518340.1
XM_011520040.2	1421	Missense Mutation	GGG,GTG	G347V	XP_011518342.1
XM_011520042.1	1421	Missense Mutation	GGG,GTG	G482V	XP_011518344.1
XM_017017639.1	1421	Missense Mutation	GGG,GTG	G611V	XP_016873128.1
XM_017017640.1	1421	Missense Mutation	GGG,GTG	G609V	XP_016873129.1
XM_017017641.1	1421	Missense Mutation	GGG,GTG	G604V	XP_016873130.1
XM_017017642.1	1421	Missense Mutation	GGG,GTG	G345V	XP_016873131.1

Gene

SMPD1

Gene Name

sphingomyelin phosphodiesterase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000543.4	1421	Intron			NP_000534.3
NM_001007593.2	1421	Intron			NP_001007594.2
NM_001318087.1	1421	Intron			NP_001305016.1
NM_001318088.1	1421	Intron			NP_001305017.1
XM_011520303.1	1421	Intron			XP_011518605.1
XM_011520304.1	1421	Intron			XP_011518606.1

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