Product Details

SNP ID
rs146290399
Assay Type
Functionally tested
NCBI dbSNP Submissions
19
Location
Chr.1:152302927 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAGAGTGTCTAAACCCGGATTCAC[C/T]ATAATCATAATCTGCACTACCATAG
Phenotype
MIM: 135940
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
FLG PubMed Links

Gene Details

Gene
FLG
Gene Name
filaggrin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002016.1 11995 Missense Mutation AGT,GGT S3987G NP_002007.1

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