Product Details

SNP ID
rs145817267
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:152910112 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATATCAGAAAGCAGAAAACCCAGA[A/G]CAGCAGCTTAAGCAGGAGAAAACAC
Phenotype
MIM: 147360
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
IVL PubMed Links

Gene Details

Gene
IVL
Gene Name
involucrin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005547.2 361 Silent Mutation GAA,GAG E105E NP_005538.2

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