Product Details

SNP ID
rs138811539
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:129061894 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACGGCCCTGCCTGCCCTGCCGGCCC[A/G]CACCCGCCACCTTCTGCTGGCCAAC
Phenotype
MIM: 173515
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
GP9 PubMed Links

Gene Details

Gene
GP9
Gene Name
glycoprotein IX platelet
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000174.4 630 Missense Mutation CAC,CGC H52R NP_000165.1
XM_005247374.3 630 Missense Mutation CAC,CGC H52R XP_005247431.1
XM_011512701.1 630 Missense Mutation CAC,CGC H52R XP_011511003.1
XM_011512702.1 630 Missense Mutation CAC,CGC H52R XP_011511004.1

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