Product Details

SNP ID

rs142430940

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:169128778 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGAGGCTTAGGCTTAGCAGGGAGC[A/G]AAGGTGATGGAGGTGGTGTCGCAGC

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	13938	Missense Mutation	TCG,TTG	S4618L	NP_004516.2
XM_011511183.2	13938	Missense Mutation	TCG,TTG	S4575L	XP_011509485.1
XM_011511184.2	13938	Missense Mutation	TCG,TTG	S3855L	XP_011509486.1

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