Product Details

SNP ID

rs12407843

Assay Type

Validated

NCBI dbSNP Submissions

49

Location

Chr.1:156903935 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

TGCTGCAGGCCTCTGCAATGTCACC[A/G]CCTCTGTGTCCCCTCCTTCTCCTGG

Phenotype

MIM: 610278

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PEAR1 PubMed Links

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	1328	Silent Mutation	CCA,CCG	P3P	NP_001073940.1
XM_005245141.3	1328	Silent Mutation	CCA,CCG	P3P	XP_005245198.1
XM_011509510.2	1328	Silent Mutation	CCA,CCG	P3P	XP_011507812.1
XM_011509511.2	1328	Silent Mutation	CCA,CCG	P3P	XP_011507813.1
XM_011509512.2	1328	UTR 5			XP_011507814.1
XM_017001234.1	1328	Missense Mutation	CAC,CGC	H73R	XP_016856723.1
XM_017001235.1	1328	Missense Mutation	CAC,CGC	H73R	XP_016856724.1
XM_017001236.1	1328	Silent Mutation	CCA,CCG	P3P	XP_016856725.1
XM_017001237.1	1328	UTR 5			XP_016856726.1
XM_017001238.1	1328	UTR 5			XP_016856727.1
XM_017001239.1	1328	UTR 5			XP_016856728.1
XM_017001240.1	1328	Intron			XP_016856729.1
XM_017001241.1	1328	Intron			XP_016856730.1
XM_017001242.1	1328	Intron			XP_016856731.1

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