Product Details

SNP ID
rs75328268
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:133465397 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCATCGAGTTTGCAAACACAGTGGC[C/G]GAGAAGGTGGACCGGCTGCGCTCCT
Phenotype
MIM: 604134 MIM: 613104 MIM: 606813
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ADAMTS13 PubMed Links

Gene Details

Gene
ADAMTS13
Gene Name
ADAM metallopeptidase with thrombospondin type 1 motif 13
There are no transcripts associated with this gene.

Gene
CACFD1
Gene Name
calcium channel flower domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135775.2 372 Intron NP_001129247.1
NM_001242369.1 372 Silent Mutation GCC,GCG A90A NP_001229298.1
NM_001242370.1 372 Intron NP_001229299.1
NM_017586.3 372 Silent Mutation GCC,GCG A90A NP_060056.1
XM_011518181.2 372 Silent Mutation GCC,GCG A62A XP_011516483.1
XM_011518182.1 372 Silent Mutation GCC,GCG A27A XP_011516484.1
XM_011518184.1 372 Intron XP_011516486.1
XM_011518185.2 372 Silent Mutation GCC,GCG A62A XP_011516487.1
XM_011518186.1 372 Silent Mutation GCC,GCG A27A XP_011516488.1
Gene
SLC2A6
Gene Name
solute carrier family 2 member 6
There are no transcripts associated with this gene.

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