Product Details

SNP ID
rs190631358
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:78855685 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCTGCTTATGGGTCCTCGATGTC[A/G]AGAAACTCCTGCTTGGGGGGCGCCG
Phenotype
MIM: 188825
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
TIMP2 PubMed Links

Gene Details

Gene
TIMP2
Gene Name
TIMP metallopeptidase inhibitor 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003255.4 947 Silent Mutation CTC,CTT L215L NP_003246.1

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