Product Details

SNP ID
rs382524
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:4933364 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
ATGGAAGCAAGGTGTGGACGTCAAG[G/T]CCATGACCTCTAACGTGGCCAGTGT
Phenotype
MIM: 606672 MIM: 610431 MIM: 604165
Polymorphism
G/T, Transversion 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_000173.6 857 Missense Mutation GCC,TCC A254S 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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