Product Details

SNP ID
rs2518846
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.22:19716242 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCGGAGCAGGAGCCAGGCCAGGTG[C/T]CTGGGTGACCAGTGGGTCTGGGGGA
Phenotype
MIM: 138720 MIM: 602724
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
GP1BB PubMed Links
Additional Information
For this assay, SNP(s) [rs9618673] 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
GP1BB
Gene Name
glycoprotein Ib platelet beta subunit
There are no transcripts associated with this gene.

Gene
SEPT5
Gene Name
septin 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001009939.2 Intron NP_001009939.1
NM_002688.5 Intron NP_002679.2
Gene
SEPT5-GP1BB
Gene Name
SEPT5-GP1BB readthrough
There are no transcripts associated with this gene.

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