Product Details

SNP ID

rs200493380

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:152698986 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCACCCAAGTGTCCTCCAAAGTGC[C/T]GACCTCAGTGCCCAGCCCCATGCCC

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	136	Nonsense Mutation	CGA,TGA	R29*	NP_848515.1

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