Product Details

SNP ID

rs201069505

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:41757423 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAACCTAGGATACTCACAGCCTCCC[A/G]GGCAGCCGGGTCATGCTTGAAGAGG

Phenotype

MIM: 173325

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

JUP PubMed Links

Gene Details

Gene

JUP

Gene Name

junction plakoglobin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002230.2	2421	Missense Mutation	CGG,TGG	R680W	NP_002221.1
NM_021991.2	2421	Missense Mutation	CGG,TGG	R680W	NP_068831.1
XM_006721873.2	2421	Missense Mutation	CGG,TGG	R680W	XP_006721936.1
XM_006721874.2	2421	Missense Mutation	CGG,TGG	R680W	XP_006721937.1
XM_006721875.1	2421	Missense Mutation	CGG,TGG	R680W	XP_006721938.1
XM_006721878.1	2421	Missense Mutation	CGG,TGG	R680W	XP_006721941.1
XM_011524753.2	2421	Missense Mutation	CGG,TGG	R680W	XP_011523055.1
XM_011524755.1	2421	Missense Mutation	CGG,TGG	R680W	XP_011523057.1
XM_011524756.1	2421	Missense Mutation	CGG,TGG	R680W	XP_011523058.1
XM_011524757.2	2421	Missense Mutation	CGG,TGG	R680W	XP_011523059.1
XM_011524758.1	2421	Missense Mutation	CGG,TGG	R680W	XP_011523060.1
XM_017024588.1	2421	Missense Mutation	CGG,TGG	R697W	XP_016880077.1
XM_017024589.1	2421	Missense Mutation	CGG,TGG	R697W	XP_016880078.1
XM_017024590.1	2421	Missense Mutation	CGG,TGG	R680W	XP_016880079.1

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