Product Details

SNP ID

rs199693209

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:152812720 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGGTCCCACTGCCACAGACCCCAG[A/C]GCTCTGGCTGCTGCAGCCAGCCCTC

Phenotype

MIM: 612604 MIM: 612605

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

LCE1B PubMed Links

Gene Details

Gene

LCE1B

Gene Name

late cornified envelope 1B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_178349.1	750	Missense Mutation	AGC,CGC	S92R	NP_848126.1

Gene

LCE1C

Gene Name

late cornified envelope 1C

There are no transcripts associated with this gene.

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