Product Details

SNP ID

rs144557881

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:31069027 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCCCCCCGGCAGGATTCCGAGGTC[C/T]GGTGTCCTCCTTTCACCATTTCGAT

Phenotype

MIM: 125645

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DSC2 PubMed Links

Gene Details

Gene

DSC2

Gene Name

desmocollin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004949.4	2836	Missense Mutation	CAG,CGG	Q792R	NP_004940.1
NM_024422.4	2836	Missense Mutation	CAG,CGG	Q792R	NP_077740.1
XM_005258206.4	2836	Missense Mutation	CAG,CGG	Q649R	XP_005258263.1

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