Product Details

SNP ID

rs201568166

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:31130597 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACTCCAGTCCCTCTTCTTCCTGCC[A/G]ATCGCTGCAGCAACCTACTGAGCCG

Phenotype

MIM: 125643

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DSC1 PubMed Links

Gene Details

Gene

DSC1

Gene Name

desmocollin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004948.3	2864	UTR 3			NP_004939.1
NM_024421.2	2864	Missense Mutation	CGG,TGG	R868W	NP_077739.1

Gene

DSCAS

Gene Name

DSC1/DSC2 antisense RNA

There are no transcripts associated with this gene.

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