Product Details

SNP ID
rs201345034
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:152579913 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACACTTGGGTGGGGGTTGGCACTG[C/T]TGCTGGTTCTGCTGGCAGGACATCT
Phenotype
MIM: 612616
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
LCE3D PubMed Links

Gene Details

Gene
LCE3D
Gene Name
late cornified envelope 3D
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032563.1 81 Silent Mutation CAA,CAG Q8Q NP_115952.1

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