Product Details

SNP ID
rs139977182
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:31778993 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGGCTTCATCTGCCTCCTGGACTT[C/T]GAGCGGCACCTTGACAGGATAGCCC
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 4119 Missense Mutation AAA,GAA K1234E NP_006286.1
XM_005249362.2 4119 Missense Mutation AAA,GAA K1235E XP_005249419.1
XM_017011246.1 4119 Missense Mutation AAA,GAA K652E XP_016866735.1
XM_017011247.1 4119 Missense Mutation AAA,GAA K652E 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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