Product Details

SNP ID

rs201971901

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:152909834 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACACACACTGCCAGTGACCCTCTCC[C/T]CTGCCCTCAGTCAGGAGCTCCTCAA

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	83	Missense Mutation	CCT,TCT	P13S	NP_005538.2

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