Product Details

SNP ID
rs200277568
Assay Type
Functionally tested
NCBI dbSNP Submissions
6
Location
Chr.1:152302881 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCCTTGAAAACAACAGGATTGGAA[C/T]TGTAACTAACACTTCCGTGCTGAGA
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 12041 Missense Mutation NP_002007.1

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