Product Details

SNP ID

rs201855218

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:143916574 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCTGTGCGGTGCGGGCGTCCACC[A/G]TGCCGCGCTGCAGGGCCTCGTCCAG

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	13193	Missense Mutation	ACG,ATG	T4443M	NP_000436.2
NM_201378.3	13193	Missense Mutation	ACG,ATG	T4402M	NP_958780.1
NM_201379.2	13193	Missense Mutation	ACG,ATG	T4394M	NP_958781.1
NM_201380.3	13193	Missense Mutation	ACG,ATG	T4553M	NP_958782.1
NM_201381.2	13193	Missense Mutation	ACG,ATG	T4384M	NP_958783.1
NM_201382.3	13193	Missense Mutation	ACG,ATG	T4416M	NP_958784.1
NM_201383.2	13193	Missense Mutation	ACG,ATG	T4420M	NP_958785.1
NM_201384.2	13193	Missense Mutation	ACG,ATG	T4416M	NP_958786.1
XM_005250976.3	13193	Missense Mutation	ACG,ATG	T4558M	XP_005251033.1
XM_005250978.3	13193	Missense Mutation	ACG,ATG	T4425M	XP_005251035.1
XM_005250979.4	13193	Missense Mutation	ACG,ATG	T4421M	XP_005251036.1
XM_005250980.4	13193	Missense Mutation	ACG,ATG	T4421M	XP_005251037.1
XM_005250981.3	13193	Missense Mutation	ACG,ATG	T4407M	XP_005251038.1
XM_005250982.3	13193	Missense Mutation	ACG,ATG	T4399M	XP_005251039.1
XM_005250983.2	13193	Missense Mutation	ACG,ATG	T4393M	XP_005251040.1
XM_005250984.4	13193	Missense Mutation	ACG,ATG	T4389M	XP_005251041.1
XM_006716588.3	13193	Missense Mutation	ACG,ATG	T4448M	XP_006716651.1
XM_006716589.2	13193	Missense Mutation	ACG,ATG	T4398M	XP_006716652.1
XM_006716590.3	13193	Missense Mutation	ACG,ATG	T4398M	XP_006716653.1
XM_011517130.2	13193	Missense Mutation	ACG,ATG	T4421M	XP_011515432.1
XM_011517131.2	13193	Missense Mutation	ACG,ATG	T4393M	XP_011515433.1
XM_011517132.2	13193	Missense Mutation	ACG,ATG	T3298M	XP_011515434.1

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