Product Details

SNP ID
rs16891281
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:33527202 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TCCTTTTGGGCTTAGAGTTCTTTTG[A/G]CTTTTGGAGCAACCGTTGCCTTCTT
Phenotype
MIM: 606184
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ADAMTS12 PubMed Links

Gene Details

Gene
ADAMTS12
Gene Name
ADAM metallopeptidase with thrombospondin type 1 motif 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001324511.1 5206 Intron NP_001311440.1
NM_001324512.1 5206 Missense Mutation CCA,TCA P1506S NP_001311441.1
NM_030955.3 5206 Missense Mutation CCA,TCA P1591S NP_112217.2
XM_017009905.1 5206 Missense Mutation CCA,TCA P1628S XP_016865394.1
XM_017009906.1 5206 Missense Mutation CCA,TCA P1464S XP_016865395.1
XM_017009907.1 5206 Missense Mutation CCA,TCA P1109S XP_016865396.1
XM_017009908.1 5206 Missense Mutation CCA,TCA P990S XP_016865397.1
XM_017009909.1 5206 Missense Mutation CCA,TCA P986S XP_016865398.1

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