Product Details

SNP ID
rs61731344
Assay Type
Functionally tested
NCBI dbSNP Submissions
18
Location
Chr.1:152909799 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCAGGTTGACAGTAGCTTCTAAGA[C/T]GTCCCAGCAACACACACTGCCAGTG
Phenotype
MIM: 147360
Polymorphism
C/T, 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 48 Missense Mutation ACG,ATG T0M NP_005538.2

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