ZMP
ENSDARG00000089493
Ensembl ID:
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 |
|---|---|---|---|
| sa38167 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa38167
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000122570 | Nonsense | 267 | 323 | 5 | 6 |
Genomic Location (Zv9):
Chromosome Zv9_NA124 (position 18112)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | KN149741.1 | 18112 |
| GRCz11 | KN149741.1 | 18112 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGAACATGTGCACACCTGGAGACCAGGAGCTCATCCTGCTGGCCAAGACA[C/T]GATACAGCCTGGTACAGGGGTCAGGGGTCACTGCTCTGTGTGCGTGTGTG
Long Flanking Sequence:
TCAAGATAAATGTGTGTGTGTATATGTGTGTGTATACCGGTTCTGGTGGCTTACAAGGACAGAAATGTGTATCATGTCATGAGTATGACCTAGTTTTACTCTCTTATGGTGTTTATGAGGACATGGCTTGTGTCCTTATAATTTAAAAGAGTTTAAAGTAATTCCTAACGAGGTCTTTTAACATTCAAACCTGTTTGTTGGGTTGGGTTGAAGGGTAGTGCTGGGTTTAGGGGCAATATAATTTTACATTACGCCTATAGAGAGTCCTCGTAAACCACCAAAACCAACATGTGTGTGTGTGTTATGCTTTGCTGACGTGTGTGTGTGTGTTTGTCTGTCAGTCTGGAGGTCAAGATCAGGAGCGCAAGCACAAGAAGCGGCGCGGTGATTTCTACTCCATCCAGACGTCTCTGATCGTGGCGGCGCTGAAGAAGATGCTGCCCATCGGCCTGAACATGTGCACACCTGGAGACCAGGAGCTCATCCTGCTGGCCAAGACA[C/T]GATACAGCCTGGTACAGGGGTCAGGGGTCACTGCTCTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGGTGCTTGTGTGTGTTNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNAGGAGTCCCACTTCGGTCCTGATACAACTCCTTCTAAACCACATAAACATATACATACACACACACACACACACACACACACACACACACACACTACTTACCCATATTCATCCATTTACATCAATCTACCCATCAATCTGTTCATCCAGCCAGATTTTCGCACATCCATCCCTCCATATAC
Associated Phenotype:
Not determined