Product Details

SNP ID

rs144519020

Assay Type

Functionally tested

NCBI dbSNP Submissions

8

Location

Chr.1:152511721 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCTCTGGGGGCTGCTGCAGCTCT[A/G]AGGGTGGTGGCTGCTGCCTGAGCCA

Phenotype

MIM: 612619

Polymorphism

A/G, 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	363	Missense Mutation	AAG,GAG	K63E	NP_848525.1

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