Product Details

SNP ID
rs139735640
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:133424323 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCTCTCCCTCTCCCCCTCCAGGC[C/T]GCCCTCCTTCCCCTGGCTTCCAGAG
Phenotype
MIM: 604134 MIM: 602930
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ADAMTS13 PubMed Links

Gene Details

Gene
ADAMTS13
Gene Name
ADAM metallopeptidase with thrombospondin type 1 motif 13
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_139025.4 619 Missense Mutation CGC,TGC R59C NP_620594.1
NM_139026.4 619 Missense Mutation CGC,TGC R59C NP_620595.1
NM_139027.4 619 Missense Mutation CGC,TGC R59C NP_620596.2
XM_011518176.2 619 Intron XP_011516478.1
XM_011518178.1 619 Intron XP_011516480.1
XM_011518179.1 619 Intron XP_011516481.1
XM_017014232.1 619 Missense Mutation CGC,TGC R55C XP_016869721.1
XM_017014233.1 619 UTR 5 XP_016869722.1
XM_017014234.1 619 Intron XP_016869723.1
XM_017014235.1 619 Missense Mutation CGC,TGC R59C XP_016869724.1
Gene
REXO4
Gene Name
REX4 homolog, 3'-5' exonuclease
There are no transcripts associated with this gene.

View Full Product Details