Product Details

SNP ID
rs200418027
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:31777636 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATAGGGCGATGGCCTCATCCACCTT[C/T]CTGAGCTCTGCTTCTGTCTGTTGGA
Phenotype
MIM: 192150 MIM: 609693
Polymorphism
C/T, 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 4172 Silent Mutation AGA,AGG R1251R NP_006286.1
XM_005249362.2 4172 Silent Mutation AGA,AGG R1252R XP_005249419.1
XM_017011246.1 4172 Silent Mutation AGA,AGG R669R XP_016866735.1
XM_017011247.1 4172 Silent Mutation AGA,AGG R669R XP_016866736.1
Gene
VWA7
Gene Name
von Willebrand factor A domain containing 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_025258.2 4172 Intron NP_079534.2
XM_005249427.2 4172 Intron XP_005249484.1
XM_017011327.1 4172 Intron XP_016866816.1
XM_017011328.1 4172 Intron XP_016866817.1
XM_017011329.1 4172 Intron XP_016866818.1

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