Product Details

SNP ID
rs147675904
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:129061819 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACTGCCCCAGCCCATGTACCTGCC[A/G]CGCCCTGGAAACCATGGGGCTGTGG
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_000174.4 555 Missense Mutation CAC,CGC H27R NP_000165.1
XM_005247374.3 555 Missense Mutation CAC,CGC H27R XP_005247431.1
XM_011512701.1 555 Missense Mutation CAC,CGC H27R XP_011511003.1
XM_011512702.1 555 Missense Mutation CAC,CGC H27R XP_011511004.1

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