Product Details

SNP ID

rs121908660

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.11:68312743 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGCAGCGCCGCCCGGGCCGCCGT[A/G]GCCGCTGCTGCTGCTGCTGCTGCTG

Phenotype

MIM: 603506

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

LRP5 PubMed Links

Additional Information

For this assay, SNP(s) [rs564221347] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

LRP5

Gene Name

LDL receptor related protein 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001291902.1	135	UTR 5			NP_001278831.1
NM_002335.3	135	Nonsense Mutation	TAG,TGG	*10W	NP_002326.2
XM_005273994.2	135	Nonsense Mutation	TAG,TGG	*10W	XP_005274051.1
XM_011545029.1	135	Intron			XP_011543331.1
XM_011545030.1	135	Intron			XP_011543332.1
XM_011545031.1	135	Intron			XP_011543333.1
XM_017017735.1	135	Intron			XP_016873224.1
XM_017017736.1	135	Intron			XP_016873225.1

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