Product Details

SNP ID
rs121918038
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:129061759 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTCCCATGCCTGCCTGGGGAGCCC[C/T]GTTCCTGCTCTGGGCCACAGCAGAG
Phenotype
MIM: 173515
Polymorphism
C/T, 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_000174.4 495 Missense Mutation CCG,CTG P7L NP_000165.1
XM_005247374.3 495 Missense Mutation CCG,CTG P7L XP_005247431.1
XM_011512701.1 495 Missense Mutation CCG,CTG P7L XP_011511003.1
XM_011512702.1 495 Missense Mutation CCG,CTG P7L XP_011511004.1

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