Product Details

SNP ID

rs146966990

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:152827787 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGTGGAGGGGACAGCGGCCAGCA[C/T]TCTGGAGGCTGCTGCTGAAGCGGAC

Phenotype

MIM: 612603

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LCE1A PubMed Links

Gene Details

Gene

LCE1A

Gene Name

late cornified envelope 1A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_178348.2	315	Silent Mutation	CAC,CAT	H105H	NP_848125.1

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