Product Details

SNP ID

rs138366708

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:41756202 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTCCATAGGGCTCATTGATGGGAA[C/T]CATGCTCTGGGCCTGAAAAAGGAGA

Phenotype

MIM: 173325

Polymorphism

C/T, 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	2442	Missense Mutation	ATT,GTT	I687V	NP_002221.1
NM_021991.2	2442	Missense Mutation	ATT,GTT	I687V	NP_068831.1
XM_006721873.2	2442	Missense Mutation	ATT,GTT	I687V	XP_006721936.1
XM_006721874.2	2442	Missense Mutation	ATT,GTT	I687V	XP_006721937.1
XM_006721875.1	2442	Missense Mutation	ATT,GTT	I687V	XP_006721938.1
XM_006721878.1	2442	Missense Mutation	ATT,GTT	I687V	XP_006721941.1
XM_011524753.2	2442	Missense Mutation	ATT,GTT	I687V	XP_011523055.1
XM_011524755.1	2442	Missense Mutation	ATT,GTT	I687V	XP_011523057.1
XM_011524756.1	2442	Missense Mutation	ATT,GTT	I687V	XP_011523058.1
XM_011524757.2	2442	Missense Mutation	ATT,GTT	I687V	XP_011523059.1
XM_011524758.1	2442	Missense Mutation	ATT,GTT	I687V	XP_011523060.1
XM_017024588.1	2442	Missense Mutation	ATT,GTT	I704V	XP_016880077.1
XM_017024589.1	2442	Missense Mutation	ATT,GTT	I704V	XP_016880078.1
XM_017024590.1	2442	Missense Mutation	ATT,GTT	I687V	XP_016880079.1

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