Product Details

SNP ID

rs200197897

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:31068932 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTGAGTAAAACTGTGCCACTCCG[A/C]GTAAGTGTATCTGCAGTTGTCCACC

Phenotype

MIM: 125645

Polymorphism

A/C, Transversion 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	2931	Missense Mutation	GCG,TCG	A824S	NP_004940.1
NM_024422.4	2931	Missense Mutation	GCG,TCG	A824S	NP_077740.1
XM_005258206.4	2931	Missense Mutation	GCG,TCG	A681S	XP_005258263.1

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