Product Details

SNP ID
rs202202178
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:124117754 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGCAACTTTGAACTACGAGAATG[A/T]GGAGAAAGTTCCTTTGGAGGCCTTC
Phenotype
MIM: 602929
Polymorphism
A/T, Transversion 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_001130142.1 334 Missense Mutation GAG,GTG E42V NP_001123614.1
NM_014622.4 334 Missense Mutation GAG,GTG E42V NP_055437.2
NM_198315.2 334 Missense Mutation GAG,GTG E42V NP_938057.1
XM_011542828.2 334 Missense Mutation GAG,GTG E58V XP_011541130.1

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