Product Details

SNP ID
rs201760075
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:12333513 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCAGAGTATTCAGTGCGGCAGGA[A/C]CACACATTGGGAAATATGCATCTGC
Phenotype
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
VWDE PubMed Links

Gene Details

Gene
VWDE
Gene Name
von Willebrand factor D and EGF domains
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135924.1 5220 Missense Mutation TGG,TGT W1570C NP_001129396.1
XM_005249641.1 5220 Missense Mutation TGG,TGT W1024C XP_005249698.1
XM_011515174.1 5220 Missense Mutation TGG,TGT W1690C XP_011513476.1
XM_011515175.1 5220 Missense Mutation TGG,TGT W1644C XP_011513477.1
XM_017011828.1 5220 Missense Mutation TGG,TGT W1455C XP_016867317.1
XM_017011829.1 5220 Missense Mutation TGG,TGT W1300C XP_016867318.1
XM_017011830.1 5220 Intron XP_016867319.1

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