Product Details

SNP ID

rs2848706

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:31447897 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GAGACAATGATGGGGCTCTTCCCCA[A/G]AACTACAGGGGCTCTGGCCATCTTC

Phenotype

MIM: 169615

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DSG3 PubMed Links

Gene Details

Gene

DSG3

Gene Name

desmoglein 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001944.2	129	Missense Mutation	AAA,AGA	K7R	NP_001935.2
XM_011525850.1	129	Missense Mutation	AAA,AGA	K7R	XP_011524152.1

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