Product Details

SNP ID

rs79179577

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:169128710 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAAGATTTGCGGTGTCTTTAAAAG[A/T]GTCTTCTGTTGCAGAATAGGTTGGA

Phenotype

MIM: 600073

Polymorphism

A/T, Transversion 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	14006	Missense Mutation	ACT,TCT	T4641S	NP_004516.2
XM_011511183.2	14006	Missense Mutation	ACT,TCT	T4598S	XP_011509485.1
XM_011511184.2	14006	Missense Mutation	ACT,TCT	T3878S	XP_011509486.1

View Full Product Details