Product Details

SNP ID
rs74867693
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:194397182 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGCCTGTTGCGGCGCAGGGACAC[C/G]TGGCGCAGCTTGCCGAGGCCGCGCA
Phenotype
MIM: 610232 MIM: 173511
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ATP13A3 PubMed Links

Gene Details

Gene
ATP13A3
Gene Name
ATPase 13A3
There are no transcripts associated with this gene.

Gene
GP5
Gene Name
glycoprotein V platelet
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004488.2 1132 Missense Mutation CAC,CAG H367Q NP_004479.1

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