Homo sapiens clone DNA193158 VDLC9339 (UNQ9339) mRNA, complete cds

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The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence. [Am J Med Genet A. 2020]
The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence.
Mis EK, Al-Ali S, Ji W, Spencer-Manzon M, Konstantino M, Khokha MK, Jeffries L, Lakhani SA. Am J Med Genet A. 2020 Oct; 182(10):2291-2296. Epub 2020 Aug 19.
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). [Hum Mutat. 2017]
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).
Wambach JA, Stettner GM, Haack TB, Writzl K, Škofljanec A, Maver A, Munell F, Ossowski S, Bosio M, Wegner DJ, et al. Hum Mutat. 2017 Nov; 38(11):1477-1484. Epub 2017 Aug 17.
Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis. [Am J Hum Genet. 2016]
Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.
Maluenda J, Manso C, Quevarec L, Vivanti A, Marguet F, Gonzales M, Guimiot F, Petit F, Toutain A, Whalen S, et al. Am J Hum Genet. 2016 Oct 6; 99(4):928-933. Epub 2016 Sep 8.

RefSeq alternative splicing
See 18 reference mRNA sequence splice variants for the GLDN gene.

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Nucleotide