Product Details

SNP ID
rs12043009
Assay Type
Functionally tested
NCBI dbSNP Submissions
40
Location
Chr.1:153261819 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GCGGCTCCTCCGTGGGTGGCTCCGG[A/G]AGTGGCAAGGGCGTCCCGATCTGCC
Phenotype
MIM: 152445
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
LOR PubMed Links

Gene Details

Gene
LOR
Gene Name
loricrin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000427.2 924 Silent Mutation GGA,GGG G290G NP_000418.2

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