Product Details

SNP ID

rs202057289

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:169129060 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGTTGGTAGTTTGTTTAGATTTTC[A/G]TTTGAAGAGATTCCATTTTGTCACC

Phenotype

MIM: 600073

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

LRP2 PubMed Links

Gene Details

Gene

LRP2

Gene Name

LDL receptor related protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004525.2	13838	Nonsense Mutation	CGA,TGA	R4585*	NP_004516.2
XM_011511183.2	13838	Nonsense Mutation	CGA,TGA	R4542*	XP_011509485.1
XM_011511184.2	13838	Nonsense Mutation	CGA,TGA	R3822*	XP_011509486.1

View Full Product Details