Product Details

SNP ID
rs80195769
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:4933024 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTTGGTGCCCTGCGTGGTCTTGG[C/T]GAACTCCAAGAGCTCTACCTGAAAG
Phenotype
MIM: 606672 MIM: 610431 MIM: 604165
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GP1BA PubMed Links

Gene Details

Gene
GP1BA
Gene Name
glycoprotein Ib platelet alpha subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000173.6 517 Silent Mutation GGC,GGT G140G NP_000164.5
Gene
RNF167
Gene Name
ring finger protein 167
There are no transcripts associated with this gene.

Gene
SLC25A11
Gene Name
solute carrier family 25 member 11
There are no transcripts associated with this gene.

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