sodium channel and clathrin linker 1 isoform X8 [Homo sapiens]

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Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1. [Ophthalmic Genet. 2024]
Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1.
Grudzinska Pechhacker MK, Molnar A, Pekkola Pacheco N, Thonberg H, Querat L, Birkeldh U, Nordgren A, Lindstrand A. Ophthalmic Genet. 2024 Feb; 45(1):95-102. Epub 2023 May 29.
Bardet-Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations. [CEN Case Rep. 2020]
Bardet-Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations.
Morisada N, Hamada R, Miura K, Ye MJ, Nozu K, Hattori M, Iijima K. CEN Case Rep. 2020 Aug; 9(3):260-265. Epub 2020 Apr 6.
Problematic alcohol use associates with sodium channel and clathrin linker 1 (SCLT1) in trauma-exposed populations. [Addict Biol. 2018]
Problematic alcohol use associates with sodium channel and clathrin linker 1 (SCLT1) in trauma-exposed populations.
Almli LM, Lori A, Meyers JL, Shin J, Fani N, Maihofer AX, Nievergelt CM, Smith AK, Mercer KB, Kerley K, et al. Addict Biol. 2018 Sep; 23(5):1145-1159. Epub 2017 Oct 30.

RefSeq genomic sequence
See the genomic reference sequence for the SCLT1 gene (NG_034202.2).
RefSeq mRNA
See reference mRNA sequence for the SCLT1 gene (XM_054348890.1).
RefSeq protein isoforms
See 24 reference sequence protein isoforms for the SCLT1 gene.

Homo sapiens sodium channel and clathrin linker 1 (SCLT1), RefSeqGene on chromos...
Homo sapiens sodium channel and clathrin linker 1 (SCLT1), RefSeqGene on chromosome 4
gi|2310188340|ref|NG_034202.2|

Nucleotide
Human DNA sequence from clone RP1-28O10 on chromosome 1q32.2-41, complete sequen...
Human DNA sequence from clone RP1-28O10 on chromosome 1q32.2-41, complete sequence
gi|4455493|emb|AL031316.2|

Nucleotide
K-EST0067223 S3SNU16 Homo sapiens cDNA clone S3SNU16-35-B02 5', mRNA sequence
K-EST0067223 S3SNU16 Homo sapiens cDNA clone S3SNU16-35-B02 5', mRNA sequence
gi|19136358|gnl|dbEST|11385422|gb|B 26.1|

Nucleotide
PREDICTED: Mus musculus kinesin family member 2C (Kif2c), transcript variant X1,...
PREDICTED: Mus musculus kinesin family member 2C (Kif2c), transcript variant X1, mRNA
gi|1720410095|ref|XM_006503433.3|

Nucleotide
Abnormal circulating creatine concentration
Abnormal circulating creatine concentration

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Protein