Product Details

SNP ID

rs201404121

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:31130674 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATACGAACAAACGTAGTCTTCACAA[C/T]GTTTATGCTCCTCATCTTGTCCACA

Phenotype

MIM: 125643

Polymorphism

C/T, 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	2787	UTR 3			NP_004939.1
NM_024421.2	2787	Missense Mutation	CAT,CGT	H842R	NP_077739.1

Gene

DSCAS

Gene Name

DSC1/DSC2 antisense RNA

There are no transcripts associated with this gene.

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