ZMP
ryr2a
Ensembl ID:
ZFIN ID:
Description:
Ryanodine receptor 2a [Source:UniProtKB/TrEMBL;Acc:A7M794]
Human Orthologue:
RYR2
Human Description:
ryanodine receptor 2 (cardiac) [Source:HGNC Symbol;Acc:10484]
Mouse Orthologue:
Ryr2
Mouse Description:
ryanodine receptor 2, cardiac Gene [Source:MGI Symbol;Acc:MGI:99685]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa38909 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa38909
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000109255 | Essential Splice Site | 82 | 277 | 3 | 6 |
Genomic Location (Zv9):
Chromosome 12 (position 48448393)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 12 | 47328426 |
| GRCz11 | 12 | 47326284 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AATCAATGTAGCCAAACAAGTCTTCAACACTCTTACAGAGTACATTCAGG[T/C]ACAGTGCACTTATTTAAACCTGTTATGCCAAAATCACTTTAATAAGGGGT
Long Flanking Sequence:
TCCAGAAGAAAAAAATATTGTTGGAAATACTGTGGAAAAATTCTTGAATCTGTTCAACATCATTTGGAAAATATTGGTAAAAAGATGGGTGAGTCGGCGCCAATAGCCTAGTGGTTAGTGCGTCGACACATAGCACCGAGGTGCTCGCAGCGACCCGAGTTCGATTCCCATCTGGAGGTCCTTTGCTGATCCTTCCCCTATCTTTGCTCCCCACACTTTCCTGTCTCTATATCTCCACTGCCCTATCAATAAAGGTGAAAAACCCCGAAAAAAAAAAATTATAAAAAAAAAAAAAAAAAAAAAAAAAAGGGGAGGGTGAATTATTTTGACAACTGTTTATATGACACACGTGTGCTCTATGTGTCCTCAGGAATCCATCAGTGATTTCTACTGGTACTACTCTGGGAAAGACGTCATTGACGAACAAGGACAACGCAATTTCTCCAAAGCAATCAATGTAGCCAAACAAGTCTTCAACACTCTTACAGAGTACATTCAGG[T/C]ACAGTGCACTTATTTAAACCTGTTATGCCAAAATCACTTTAATAAGGGGTTTAAACACCGTGTTCTGTCAGCAGTGTGTGAATATAGCAGCGCAATCTCACTGCAATTCGTAACTTTTTGCTTTAGTGGCTAATTCATATGAATTCGAACGATCTAATTCGTACAATTTAGTACGATTTGCTCATCCCCCAATGATGGTTGTGATTGTGTGCCACGCCTCCTTTTTAAAATTGTACTTTTTCGTACGAATTAGCCACTTAACTGACAAAACGTAAAATACTTACGTTTCCTCGTGAGATCACTCTGGAATATAGCCATCCTCTAATAGTAAACATGAATTAATTCAGTTTTTTATATAAAAACTTGATAAAAACAGTGATTTGACATTCTCCCTTTGTCTGTGTCATCAGAGGGGGAAAGCCCCGCCCACTAGTGCCCATCTCTCCCTCATTAGCATAAACAGCAGCCCTGAGTGAGAAGCAGCCGTCAGTCCATTCTCC
Associated Phenotype:
Not determined