Product Details

SNP ID

rs143043662

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:41757519 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGTCCTCGGAGATGCGGAACAGGA[C/T]GGCAGCAGCGTAGGTGGCTGAGCAG

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	2325	Missense Mutation	ATC,GTC	I648V	NP_002221.1
NM_021991.2	2325	Missense Mutation	ATC,GTC	I648V	NP_068831.1
XM_006721873.2	2325	Missense Mutation	ATC,GTC	I648V	XP_006721936.1
XM_006721874.2	2325	Missense Mutation	ATC,GTC	I648V	XP_006721937.1
XM_006721875.1	2325	Missense Mutation	ATC,GTC	I648V	XP_006721938.1
XM_006721878.1	2325	Missense Mutation	ATC,GTC	I648V	XP_006721941.1
XM_011524753.2	2325	Missense Mutation	ATC,GTC	I648V	XP_011523055.1
XM_011524755.1	2325	Missense Mutation	ATC,GTC	I648V	XP_011523057.1
XM_011524756.1	2325	Missense Mutation	ATC,GTC	I648V	XP_011523058.1
XM_011524757.2	2325	Missense Mutation	ATC,GTC	I648V	XP_011523059.1
XM_011524758.1	2325	Missense Mutation	ATC,GTC	I648V	XP_011523060.1
XM_017024588.1	2325	Missense Mutation	ATC,GTC	I665V	XP_016880077.1
XM_017024589.1	2325	Missense Mutation	ATC,GTC	I665V	XP_016880078.1
XM_017024590.1	2325	Missense Mutation	ATC,GTC	I648V	XP_016880079.1

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