Product Details

SNP ID

rs200447944

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:143916581 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGGTGCGGGCGTCCACCGTGCCGC[A/G]CTGCAGGGCCTCGTCCAGGGGCACG

Phenotype

MIM: 601282

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PLEC PubMed Links

Gene Details

Gene

PLEC

Gene Name

plectin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000445.4	13186	Missense Mutation	CGC,TGC	R4441C	NP_000436.2
NM_201378.3	13186	Missense Mutation	CGC,TGC	R4400C	NP_958780.1
NM_201379.2	13186	Missense Mutation	CGC,TGC	R4392C	NP_958781.1
NM_201380.3	13186	Missense Mutation	CGC,TGC	R4551C	NP_958782.1
NM_201381.2	13186	Missense Mutation	CGC,TGC	R4382C	NP_958783.1
NM_201382.3	13186	Missense Mutation	CGC,TGC	R4414C	NP_958784.1
NM_201383.2	13186	Missense Mutation	CGC,TGC	R4418C	NP_958785.1
NM_201384.2	13186	Missense Mutation	CGC,TGC	R4414C	NP_958786.1
XM_005250976.3	13186	Missense Mutation	CGC,TGC	R4556C	XP_005251033.1
XM_005250978.3	13186	Missense Mutation	CGC,TGC	R4423C	XP_005251035.1
XM_005250979.4	13186	Missense Mutation	CGC,TGC	R4419C	XP_005251036.1
XM_005250980.4	13186	Missense Mutation	CGC,TGC	R4419C	XP_005251037.1
XM_005250981.3	13186	Missense Mutation	CGC,TGC	R4405C	XP_005251038.1
XM_005250982.3	13186	Missense Mutation	CGC,TGC	R4397C	XP_005251039.1
XM_005250983.2	13186	Missense Mutation	CGC,TGC	R4391C	XP_005251040.1
XM_005250984.4	13186	Missense Mutation	CGC,TGC	R4387C	XP_005251041.1
XM_006716588.3	13186	Missense Mutation	CGC,TGC	R4446C	XP_006716651.1
XM_006716589.2	13186	Missense Mutation	CGC,TGC	R4396C	XP_006716652.1
XM_006716590.3	13186	Missense Mutation	CGC,TGC	R4396C	XP_006716653.1
XM_011517130.2	13186	Missense Mutation	CGC,TGC	R4419C	XP_011515432.1
XM_011517131.2	13186	Missense Mutation	CGC,TGC	R4391C	XP_011515433.1
XM_011517132.2	13186	Missense Mutation	CGC,TGC	R3296C	XP_011515434.1

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