Product Details

SNP ID
rs112496497
Assay Type
Functionally Tested
NCBI dbSNP Submissions
7
Location
Chr.1:152698939 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAAACCAGCAGCAGTGCCAGCCCC[C/T]TCCCAAGTGCCCCCCAAAATGCCCA
Phenotype
MIM: 612609
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
LCE2A PubMed Links

Gene Details

Gene
LCE2A
Gene Name
late cornified envelope 2A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_178428.3 89 Missense Mutation CCT,CTT P13L NP_848515.1

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