Product Details

SNP ID

rs139773809

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:124117546 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTGTGGCCTACTCACCCTCCACC[C/G]GGAGCCAGGTAAGCCTAATTTGTGA

Phenotype

MIM: 602929

Polymorphism

C/G, 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	244	Missense Mutation	CCG,CGG	P12R	NP_001123614.1
NM_014622.4	244	Missense Mutation	CCG,CGG	P12R	NP_055437.2
NM_198315.2	244	Missense Mutation	CCG,CGG	P12R	NP_938057.1
XM_011542828.2	244	Missense Mutation	CCG,CGG	P28R	XP_011541130.1

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