Homo sapiens chromosome 12 open reading frame 57 (C12orf57), transcrip - Nucleotide

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A novel pathogenic compound heterozygous variant in C12orf57 gene in a child with Temtamy syndrome presenting with overlapping phenotypic features of Kabuki-like syndrome. [Brain Dev. 2023]
A novel pathogenic compound heterozygous variant in C12orf57 gene in a child with Temtamy syndrome presenting with overlapping phenotypic features of Kabuki-like syndrome.
Nerakh G, Vasikarla M. Brain Dev. 2023 Oct; 45(9):512-516. Epub 2023 Jul 12.
Physical and functional interactome atlas of human receptor tyrosine kinases. [EMBO Rep. 2022]
Physical and functional interactome atlas of human receptor tyrosine kinases.
Salokas K, Liu X, Öhman T, Chowdhury I, Gawriyski L, Keskitalo S, Varjosalo M. EMBO Rep. 2022 Jun 7; 23(6):e54041. Epub 2022 Apr 5.
OpenCell: Endogenous tagging for the cartography of human cellular organization. [Science. 2022]
OpenCell: Endogenous tagging for the cartography of human cellular organization.
Cho NH, Cheveralls KC, Brunner AD, Kim K, Michaelis AC, Raghavan P, Kobayashi H, Savy L, Li JY, Canaj H, et al. Science. 2022 Mar 11; 375(6585):eabi6983. Epub 2022 Mar 11.

RefSeq alternative splicing
See 5 reference mRNA sequence splice variants for the C12orf57 gene.
RefSeq protein product
See the reference protein sequence for protein C10 isoform 2 (NP_001288765.1).

Protein
Protein sequence from Nucleotide coding region
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Order C12orf57 cDNA clone/Protein/Antibody/RNAi [OriGene]
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terf2ip telomeric repeat binding factor 2, interacting protein [Danio rerio]
terf2ip telomeric repeat binding factor 2, interacting protein [Danio rerio]
Gene ID:407707

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Nucleotide