Product Details

SNP ID
rs200588763
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.6:31779171 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGAAGCCAGAGCCACAGCGCAACC[C/G]TGGGGGGCGGGAGCCCCCAGGGCCA
Phenotype
MIM: 192150 MIM: 609693
Polymorphism
C/G, Transversion 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 3941 Missense Mutation CAC,CAG H1174Q NP_006286.1
XM_005249362.2 3941 Missense Mutation CAC,CAG H1175Q XP_005249419.1
XM_017011246.1 3941 Missense Mutation CAC,CAG H592Q XP_016866735.1
XM_017011247.1 3941 Missense Mutation CAC,CAG H592Q XP_016866736.1
Gene
VWA7
Gene Name
von Willebrand factor A domain containing 7
There are no transcripts associated with this gene.

View Full Product Details