Product Details

SNP ID
rs707927
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:31777741 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CAAACACCCAGGACAACAAAGTTGG[A/G]AAGATGAGCGAGGACCATGGGAGGT
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 Intron NP_006286.1
XM_005249362.2 Intron XP_005249419.1
XM_017011246.1 Intron XP_016866735.1
XM_017011247.1 Intron 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 Intron NP_079534.2
XM_005249427.2 Intron XP_005249484.1
XM_017011327.1 Intron XP_016866816.1
XM_017011328.1 Intron XP_016866817.1
XM_017011329.1 Intron XP_016866818.1

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