Product Details

SNP ID

rs142822331

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:152566182 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGGGCACTTGGGTGGGGGTTGGCA[C/G]TGCTTCTGGTTCTGCTGGCAGGACA

Phenotype

MIM: 612617

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

LCE3E PubMed Links

Gene Details

Gene

LCE3E

Gene Name

late cornified envelope 3E

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_178435.3	64	Silent Mutation	CAC,CAG	H9Q	NP_848522.1
XM_011509484.1	64	Missense Mutation	CAC,CAG	H9Q	XP_011507786.1

View Full Product Details