Product Details

SNP ID

rs199651668

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:143916829 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCTTGTTGACGGCGTCGGTGACA[A/G]GGAAGCGCTCACCGGTGCTGGGGTC

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	12938	Missense Mutation	CCT,CTT	P4358L	NP_000436.2
NM_201378.3	12938	Missense Mutation	CCT,CTT	P4317L	NP_958780.1
NM_201379.2	12938	Missense Mutation	CCT,CTT	P4309L	NP_958781.1
NM_201380.3	12938	Missense Mutation	CCT,CTT	P4468L	NP_958782.1
NM_201381.2	12938	Missense Mutation	CCT,CTT	P4299L	NP_958783.1
NM_201382.3	12938	Missense Mutation	CCT,CTT	P4331L	NP_958784.1
NM_201383.2	12938	Missense Mutation	CCT,CTT	P4335L	NP_958785.1
NM_201384.2	12938	Missense Mutation	CCT,CTT	P4331L	NP_958786.1
XM_005250976.3	12938	Missense Mutation	CCT,CTT	P4473L	XP_005251033.1
XM_005250978.3	12938	Missense Mutation	CCT,CTT	P4340L	XP_005251035.1
XM_005250979.4	12938	Missense Mutation	CCT,CTT	P4336L	XP_005251036.1
XM_005250980.4	12938	Missense Mutation	CCT,CTT	P4336L	XP_005251037.1
XM_005250981.3	12938	Missense Mutation	CCT,CTT	P4322L	XP_005251038.1
XM_005250982.3	12938	Missense Mutation	CCT,CTT	P4314L	XP_005251039.1
XM_005250983.2	12938	Missense Mutation	CCT,CTT	P4308L	XP_005251040.1
XM_005250984.4	12938	Missense Mutation	CCT,CTT	P4304L	XP_005251041.1
XM_006716588.3	12938	Missense Mutation	CCT,CTT	P4363L	XP_006716651.1
XM_006716589.2	12938	Missense Mutation	CCT,CTT	P4313L	XP_006716652.1
XM_006716590.3	12938	Missense Mutation	CCT,CTT	P4313L	XP_006716653.1
XM_011517130.2	12938	Missense Mutation	CCT,CTT	P4336L	XP_011515432.1
XM_011517131.2	12938	Missense Mutation	CCT,CTT	P4308L	XP_011515433.1
XM_011517132.2	12938	Missense Mutation	CCT,CTT	P3213L	XP_011515434.1

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