Product Details

SNP ID
rs142299528
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:124118226 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATGAGAAAGCCATCTCCCAGGGCC[A/G]CCAGGCCTTCTTATTGGAGGGGGAC
Phenotype
MIM: 602929
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
VWA5A PubMed Links

Gene Details

Gene
VWA5A
Gene Name
von Willebrand factor A domain containing 5A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130142.1 493 Missense Mutation CAC,CGC H95R NP_001123614.1
NM_014622.4 493 Missense Mutation CAC,CGC H95R NP_055437.2
NM_198315.2 493 Missense Mutation CAC,CGC H95R NP_938057.1
XM_011542828.2 493 Missense Mutation CAC,CGC H111R XP_011541130.1

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