Product Details

SNP ID

rs186465653

Assay Type

Functionally Tested

NCBI dbSNP Submissions

7

Location

Chr.1:156903934 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGCTGCAGGCCTCTGCAATGTCAC[C/T]GCCTCTGTGTCCCCTCCTTCTCCTG

Phenotype

MIM: 610278

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

PEAR1 PubMed Links

Additional Information

For this assay, SNP(s) [rs12407843] 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

PEAR1

Gene Name

platelet endothelial aggregation receptor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001080471.1	1327	Missense Mutation	CCG,CTG	P3L	NP_001073940.1
XM_005245141.3	1327	Missense Mutation	CCG,CTG	P3L	XP_005245198.1
XM_011509510.2	1327	Missense Mutation	CCG,CTG	P3L	XP_011507812.1
XM_011509511.2	1327	Missense Mutation	CCG,CTG	P3L	XP_011507813.1
XM_011509512.2	1327	UTR 5			XP_011507814.1
XM_017001234.1	1327	Missense Mutation	CGC,TGC	R73C	XP_016856723.1
XM_017001235.1	1327	Missense Mutation	CGC,TGC	R73C	XP_016856724.1
XM_017001236.1	1327	Missense Mutation	CCG,CTG	P3L	XP_016856725.1
XM_017001237.1	1327	UTR 5			XP_016856726.1
XM_017001238.1	1327	UTR 5			XP_016856727.1
XM_017001239.1	1327	UTR 5			XP_016856728.1
XM_017001240.1	1327	Intron			XP_016856729.1
XM_017001241.1	1327	Intron			XP_016856730.1
XM_017001242.1	1327	Intron			XP_016856731.1

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