transmembrane protein 231 isoform 1 [Homo sapiens]

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Long-read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel-Gruber syndrome. [Hum Mutat. 2020]
Long-read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel-Gruber syndrome.
Watson CM, Dean P, Camm N, Bates J, Carr IM, Gardiner CA, Bonthron DT. Hum Mutat. 2020 Feb; 41(2):525-531. Epub 2019 Nov 11.
TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family. [Hum Mutat. 2016]
TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.
Maglic D, Stephen J, Malicdan MC, Guo J, Fischer R, Konzman D, NISC Comparative Sequencing Program, Mullikin JC, Gahl WA, Vilboux T, et al. Hum Mutat. 2016 Nov; 37(11):1144-1148. Epub 2016 Aug 21.
Mutations in TMEM231 cause Meckel-Gruber syndrome. [J Med Genet. 2013]
Mutations in TMEM231 cause Meckel-Gruber syndrome.
Shaheen R, Ansari S, Mardawi EA, Alshammari MJ, Alkuraya FS. J Med Genet. 2013 Mar; 50(3):160-2. Epub 2013 Jan 24.

RefSeq genomic sequence
See the genomic reference sequence for the TMEM231 gene (NG_033109.1).
RefSeq mRNA
See reference mRNA sequence for the TMEM231 gene (NM_001077416.2).
RefSeq protein isoforms
See the other reference sequence protein isoform for the TMEM231 gene (NP_001070886.1).

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SNP
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NP_001070884 [Domain Mapping of Disease Mut...]
NP_001070884
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

transmembrane protein 231 isoform 1 [Homo sapiens]
transmembrane protein 231 isoform 1 [Homo sapiens]
gi|443287671|ref|NP_001070884.2|

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