Product Details

SNP ID

rs147448941

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:152909824 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTCCCAGCAACACACACTGCCAGT[A/G]ACCCTCTCCCCTGCCCTCAGTCAGG

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	73	Silent Mutation	GTA,GTG	V9V	NP_005538.2

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