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
- Gene
- SEPT5-GP1BB
- Gene Name
- SEPT5-GP1BB readthrough
There are no transcripts associated with this gene.
View Full Product Details