Product Details

SNP ID

rs184487763

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:31068175 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATATGTCAGGACATAGTCTTGGGCA[G/T]GCTTGTGATTTTCATCTTGATTACA

Phenotype

MIM: 125645

Polymorphism

G/T, 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	3053	UTR 3			NP_004940.1
NM_024422.4	3053	Missense Mutation	CAT,CCT	H849P	NP_077740.1
XM_005258206.4	3053	Missense Mutation	CAT,CCT	H706P	XP_005258263.1

View Full Product Details