Product Details

SNP ID

rs200643281

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:185367185 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGTTGAAATACATTGTGGTCTAAA[C/T]TCTTTGACGAATAAGTAAGGAGTGA

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LRP2BP PubMed Links

Gene Details

Gene

LRP2BP

Gene Name

LRP2 binding protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018409.3	1104	Missense Mutation	ATT,GTT	I347V	NP_060879.2
XM_005263125.4	1104	Missense Mutation	ATT,GTT	I249V	XP_005263182.1
XM_006714260.3	1104	Missense Mutation	ATT,GTT	I347V	XP_006714323.1
XM_006714265.3	1104	Missense Mutation	ATT,GTT	I249V	XP_006714328.1
XM_011532110.2	1104	Missense Mutation	ATT,GTT	I314V	XP_011530412.1
XM_011532111.2	1104	Missense Mutation	ATT,GTT	I249V	XP_011530413.1
XM_017008410.1	1104	Missense Mutation	ATT,GTT	I347V	XP_016863899.1
XM_017008411.1	1104	Missense Mutation	ATT,GTT	I346V	XP_016863900.1

Gene

SNX25

Gene Name

sorting nexin 25

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317781.1	1104	Intron			NP_001304710.1

View Full Product Details