Homo sapiens solute carrier family 34 member 1 (SLC34A1), transcript v - Nucleotide

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Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia. [Orphanet J Rare Dis. 2024]
Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia.
Wang Q, Chen JJ, Wei LY, Ding Y, Liu M, Li WJ, Su C, Gong CX. Orphanet J Rare Dis. 2024 Mar 19; 19(1):126. Epub 2024 Mar 19.
High frequency of heterozygous rare variants of the SLC34A1 and SLC9A3R1 genes in patients with atypical femur fracture. [Eur J Endocrinol. 2023]
High frequency of heterozygous rare variants of the SLC34A1 and SLC9A3R1 genes in patients with atypical femur fracture.
Marini F, Giusti F, Marasco E, Xumerle L, Kwiatkowska KM, Garagnani P, Biver E, Ferrari S, Iolascon G, Iantomasi T, et al. Eur J Endocrinol. 2023 Jan 10; 188(1).
The human pathogenic 91del7 mutation in SLC34A1 has no effect in mineral homeostasis in mice. [Sci Rep. 2022]
The human pathogenic 91del7 mutation in SLC34A1 has no effect in mineral homeostasis in mice.
Bieri C, Daryadel A, Bettoni C, Pastor-Arroyo EM, Schnitzbauer U, Hernando N, Wagner CA. Sci Rep. 2022 Apr 12; 12(1):6102. Epub 2022 Apr 12.

RefSeq alternative splicing
See the other reference mRNA sequence splice variant for the SLC34A1 gene (NM_003052.5).
RefSeq protein product
See the reference protein sequence for sodium-dependent phosphate transport protein 2A isoform 2 (NP_001161051.1).

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Nucleotide