Product Details

SNP ID

rs1126821

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:41755893 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TACATGGGGCGGTAGGTGGCATCCA[A/T]GTCTGGGGACAAAAAGTGGGGCTCG

Phenotype

MIM: 173325

Polymorphism

A/T, Transversion 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	2472	Missense Mutation	ATG,TTG	M697L	NP_002221.1
NM_021991.2	2472	Missense Mutation	ATG,TTG	M697L	NP_068831.1
XM_006721873.2	2472	Missense Mutation	ATG,TTG	M697L	XP_006721936.1
XM_006721874.2	2472	Missense Mutation	ATG,TTG	M697L	XP_006721937.1
XM_006721875.1	2472	Missense Mutation	ATG,TTG	M697L	XP_006721938.1
XM_006721878.1	2472	Missense Mutation	ATG,TTG	M697L	XP_006721941.1
XM_011524753.2	2472	Missense Mutation	ATG,TTG	M697L	XP_011523055.1
XM_011524755.1	2472	Missense Mutation	ATG,TTG	M697L	XP_011523057.1
XM_011524756.1	2472	Missense Mutation	ATG,TTG	M697L	XP_011523058.1
XM_011524757.2	2472	Missense Mutation	ATG,TTG	M697L	XP_011523059.1
XM_011524758.1	2472	Missense Mutation	ATG,TTG	M697L	XP_011523060.1
XM_017024588.1	2472	Missense Mutation	ATG,TTG	M714L	XP_016880077.1
XM_017024589.1	2472	Missense Mutation	ATG,TTG	M714L	XP_016880078.1
XM_017024590.1	2472	Missense Mutation	ATG,TTG	M697L	XP_016880079.1

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