Homo sapiens ryanodine receptor 1 (RYR1), transcript variant 2, mRNA

Run BLAST
Find regions of similarity between this sequence and other sequences using BLAST.
Pick Primers
Design and test primers for this sequence using Primer-BLAST.
Show in Genome Data Viewer
Opens the Genome Data Viewer, NCBI's genome browser, at the genomic location at which this sequence is annotated. View this sequence in the context of other features annotated at the same location and browse to other genome regions.

Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies. [Prenat Diagn. 2024]
Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies.
Jackson M, Thomas MA, Suchet I, Mahallati H, Kuret V, Lauzon J. Prenat Diagn. 2024 Apr; 44(4):522-526. Epub 2024 Mar 23.
A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice. [J Gen Physiol. 2024]
A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice.
Benucci S, Ruiz A, Franchini M, Ruggiero L, Zoppi D, Sitsapesan R, Lindsay C, Pelczar P, Pietrangelo L, Protasi F, et al. J Gen Physiol. 2024 Apr 1; 156(4). Epub 2024 Mar 4.
Successful Correction by Prime Editing of a Mutation in the RYR1 Gene Responsible for a Myopathy. [Cells. 2023]
Successful Correction by Prime Editing of a Mutation in the RYR1 Gene Responsible for a Myopathy.
Godbout K, Rousseau J, Tremblay JP. Cells. 2023 Dec 22; 13(1). Epub 2023 Dec 22.

RefSeq protein product
See the reference protein sequence for ryanodine receptor 1 isoform 2 (NP_001036188.1).

Protein
Protein sequence from Nucleotide coding region
PubMed
PubMed articles cited by Nucleotide sequence record
Taxonomy
Taxonomy sequences associated with Nucleotide record
Annotated Genomic
Genomic sequence records that have the current RNA records as annotated features marking the exons of genes.
BioSystems
BioSystems
CCDS
Link to Consensus CDS
Components (Core)
Links to Core components
Full text in PMC
Free full text articles in PMC
Functional Class
Functional class of the sequence domain architecture
Gene
Link to related Genes
OMIM
OMIM records associated with Nucleotide sequence
PubMed (RefSeq)
Link to RefSeq PubMed articles
PubMed (Weighted)
Links to pubmed

Ensembl [Ensembl]
Ensembl
GenScript latest version of gene cDNA ORF Clone [GenScript latest version of g...]
GenScript latest version of gene cDNA ORF Clone
Order TALEN/CRISPR clone [GeneCopoeia Inc.]
Order TALEN/CRISPR clone
GeneCopoeia Inc.
Order qPCR primer [GeneCopoeia Inc.]
Order qPCR primer
GeneCopoeia Inc.
Order full-length cDNA clone [GeneCopoeia Inc.]
Order full-length cDNA clone
GeneCopoeia Inc.
UCSC Genome Browser [UCSC Genome Browser]
UCSC Genome Browser