snRNA-activating protein complex subunit 4 isoform a [Homo sapiens]

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Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis. [Am J Hum Genet. 2023]
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
Frost FG, Morimoto M, Sharma P, Ruaud L, Belnap N, Calame DG, Uchiyama Y, Matsumoto N, Oud MM, Ferreira EA, et al. Am J Hum Genet. 2023 Apr 6; 110(4):663-680. Epub 2023 Mar 24.
Evidence for genetic association of CARD9 and SNAPC4 with ankylosing spondylitis in a Chinese Han population. [J Rheumatol. 2014]
Evidence for genetic association of CARD9 and SNAPC4 with ankylosing spondylitis in a Chinese Han population.
Ma X, Liu Y, Zhang H, Qiu R, Zhao H, Xin Q, Shan S, Dang J, Li J, Yang Z, et al. J Rheumatol. 2014 Feb; 41(2):318-24. Epub 2013 Dec 15.
Elucidating the chromosome 9 association with AS; CARD9 is a candidate gene. [Genes Immun. 2010]
Elucidating the chromosome 9 association with AS; CARD9 is a candidate gene.
Pointon JJ, Harvey D, Karaderi T, Appleton LH, Farrar C, Stone MA, Sturrock RD, Brown MA, Wordsworth BP. Genes Immun. 2010 Sep; 11(6):490-6. Epub 2010 May 13.

RefSeq genomic sequence
See the genomic reference sequence for the SNAPC4 gene (NG_051233.1).
RefSeq mRNA
See reference mRNA sequence for the SNAPC4 gene (NM_003086.4).
RefSeq protein isoforms
See 14 reference sequence protein isoforms for the SNAPC4 gene.

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NP_003077 [Domain Mapping of Disease Mut...]
NP_003077
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
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reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

small nuclear RNA activating complex, polypeptide 4, 190kDa, isoform CRA_a [Homo...
small nuclear RNA activating complex, polypeptide 4, 190kDa, isoform CRA_a [Homo sapiens]
gi|119608633|gb|EAW88227.1||gnl|WGS |hCP1795794

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