ZMP
RYR2 (1 of 3)
Ensembl ID:
Description:
ryanodine receptor 2 (cardiac) [Source:HGNC Symbol;Acc:10484]
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 |
|---|---|---|---|
| sa22177 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa22177
Status:
Available for shipment
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For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000078464 | Nonsense | 35 | 164 | 2 | 6 |
Genomic Location (Zv9):
Chromosome 12 (position 48477288)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 12 | 47357321 |
| GRCz11 | 12 | 47355179 |
KASP Assay ID:
2260-5782.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCGTGCCGGTGGAGGCATCGGGGATCAGATTGAAGATCCAGCCGGAGAC[G/T]AGTACGAGATCTACCGCATCATCTTCGACATCACCTTCTTCTTCTTCGTC
Long Flanking Sequence:
AATTGAGTCCTTCAGGCTTGTTTGAAACCTACAGGTAAGTGTGTTGGAGCAGGGTTGGAACTAAACTGTGCAGGGCTTCGGCCCTCTAGGAATTGAGTTTGACACCCCTGCTCTAGGCTATTGGCACCGACTATGAAGTCTTAAATCCTTTTGAGACATTCATTCCAAATTTCATCAGGAACTTCTTCATCAAATTCTTACATATAGTTCATATTTTTAAGGATATTGTCTGAGTAGTGAAGCAGCATCAGTGTTTGTGTTCTTAGTCTTTTGATGTTGCTGTTATTGATTATGTTGTTGGTTGGTTTATTACAGTGCTTTATATCAGTCTCTACAAAGCACTAGTGAAGTGAAGCTGAGCATGATATGTGTTCAGAAGTGAGTGATCAGATCGATGCTTCTCTTCTCTTTGGTCTGTGCAGTGCTACATGTTTCACATGTATGTGGGCGTTCGTGCCGGTGGAGGCATCGGGGATCAGATTGAAGATCCAGCCGGAGAC[G/T]AGTACGAGATCTACCGCATCATCTTCGACATCACCTTCTTCTTCTTCGTCATCGTCATTCTCCTGGCCATCATTCAGGGTGTGTGTCTGTGTGTATTCGGTGTGTAAATAGTGTTTGTGCGCTGCTGGATCTGACGTGTGTGTGTGTGTGTTTCAGGTCTGATCATAGACGCGTTTGGTGAACTGAGGGACCAGCAAGAGCAGGTGAAAGAGGACATGGAGGTGAGGAAACACAAAACAGGGATTCAAATGCTTGAGTTTTAATCTCGTGTTTCAATGTTTAAAGAAAAAAATACTAATTAATCACACTTTTTTTTGTAATTAATCATGATTAATCACGAAAAGCCGTTTTTATTAGAGACATGAAAACACAGGCATGTTGATGTCAATTGAATTTCAAAATAATCAATGCCAATAACAATCAAAAATGATTTCCATGTTGGATTACAAAAAGTGGACTACAAAAAAAAAAAAAAAATCCAAAATACAGTCATTGCAGAT
Associated Phenotype:
Not determined