Product Details

SNP ID

rs138884452

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:41757526 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGAGATGCGGAACAGGACGGCAGC[A/G]GCGTAGGTGGCTGAGCAGAGAGGAA

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	2318	Silent Mutation	GCC,GCT	A645A	NP_002221.1
NM_021991.2	2318	Silent Mutation	GCC,GCT	A645A	NP_068831.1
XM_006721873.2	2318	Silent Mutation	GCC,GCT	A645A	XP_006721936.1
XM_006721874.2	2318	Silent Mutation	GCC,GCT	A645A	XP_006721937.1
XM_006721875.1	2318	Silent Mutation	GCC,GCT	A645A	XP_006721938.1
XM_006721878.1	2318	Silent Mutation	GCC,GCT	A645A	XP_006721941.1
XM_011524753.2	2318	Silent Mutation	GCC,GCT	A645A	XP_011523055.1
XM_011524755.1	2318	Silent Mutation	GCC,GCT	A645A	XP_011523057.1
XM_011524756.1	2318	Silent Mutation	GCC,GCT	A645A	XP_011523058.1
XM_011524757.2	2318	Silent Mutation	GCC,GCT	A645A	XP_011523059.1
XM_011524758.1	2318	Silent Mutation	GCC,GCT	A645A	XP_011523060.1
XM_017024588.1	2318	Silent Mutation	GCC,GCT	A662A	XP_016880077.1
XM_017024589.1	2318	Silent Mutation	GCC,GCT	A662A	XP_016880078.1
XM_017024590.1	2318	Silent Mutation	GCC,GCT	A645A	XP_016880079.1

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