Product Details

SNP ID
rs141077941
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:31779098 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGGCTTGCAGCTTGCCCAGCTCCC[A/G]TGCAGGGTCCACCAGCCCCTGAAGC
Phenotype
MIM: 192150 MIM: 609693
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
VARS PubMed Links

Gene Details

Gene
VARS
Gene Name
valyl-tRNA synthetase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006295.2 4014 Missense Mutation CGG,TGG R1199W NP_006286.1
XM_005249362.2 4014 Missense Mutation CGG,TGG R1200W XP_005249419.1
XM_017011246.1 4014 Missense Mutation CGG,TGG R617W XP_016866735.1
XM_017011247.1 4014 Missense Mutation CGG,TGG R617W XP_016866736.1
Gene
VWA7
Gene Name
von Willebrand factor A domain containing 7
There are no transcripts associated with this gene.

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