Product Details

SNP ID

rs201426932

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:152566187 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACTTGGGTGGGGGTTGGCACTGCT[G/T]CTGGTTCTGCTGGCAGGACATCTTG

Phenotype

MIM: 612617

Polymorphism

G/T, 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	59	Missense Mutation	AAG,CAG	K8Q	NP_848522.1
XM_011509484.1	59	Missense Mutation	AAG,CAG	K8Q	XP_011507786.1

View Full Product Details