Product Details

SNP ID

rs2282298

Assay Type

Functionally tested

NCBI dbSNP Submissions

21

Location

Chr.1:152511769 on Build GRCh38

Set Membership

HapMap JSNP

Context Sequence [VIC/FAM]

CCACCACAGGCCCCGCCAGTCCCTC[C/T]GACGCCGACCTCAGAGTTCCAGCTG

Phenotype

MIM: 612619

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CRCT1 PubMed Links

Gene Details

Gene

CRCT1

Gene Name

cysteine rich C-terminal 1

There are no transcripts associated with this gene.

Gene

LCE5A

Gene Name

late cornified envelope 5A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_178438.4	411	Nonsense Mutation	CGA,TGA	R79*	NP_848525.1

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