Product Details

SNP ID

rs1617629

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:31069021 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGGCCAGCCCCCCGGCAGGATTCC[G/A]AGGTCTGGTGTCCTCCTTTCACCAT

Phenotype

MIM: 125645

Polymorphism

G/A, 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	2842	Missense Mutation	TCG,TTG	S794L	NP_004940.1
NM_024422.4	2842	Missense Mutation	TCG,TTG	S794L	NP_077740.1
XM_005258206.4	2842	Missense Mutation	TCG,TTG	S651L	XP_005258263.1

View Full Product Details