ZMP
jph2
Ensembl ID:
ZFIN ID:
Description:
junctophilin-2 [Source:RefSeq peptide;Acc:NP_001082833]
Human Orthologue:
JPH2
Human Description:
junctophilin 2 [Source:HGNC Symbol;Acc:14202]
Mouse Orthologue:
Jph2
Mouse Description:
junctophilin 2 Gene [Source:MGI Symbol;Acc:MGI:1891496]
Alleles
There are 5 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa798 | Nonsense | Available for shipment | Available now |
| sa32459 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa798
Status:
Available for shipment
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:
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000043429 | Nonsense | 35 | 781 | 1 | 6 |
Genomic Location (Zv9):
Chromosome 23 (position 35807213)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 23 | 35656866 |
| GRCz11 | 23 | 35755669 |
KASP Assay ID:
554-0703.1 (used for ordering genotyping assays)
KASP Sequence:
GGGAGGGAGGAAAAGCGCACGGACACGGGATCTGCACCGGACCCAAAGGA[C/T]AAGGAGAGTTCTCCGGCTCTTGGAATTACGGGTTCGAGGTGGTCGGAGTC
Long Flanking Sequence:
TTGTTGGGACTGTGAAACACATCCAGCTACTCCAAGTGCGAAGCGGGGAGGCAGGGAGAGGGGAGAGGGGTTGAAAAGCCATGATCTATTCGATTAAATAGATCATTGTAAACAGAAAGCAACAAGATTATGTAACTAAAAACAAAAAGCTAAAAAACAATCCTCCCTCTCCTAAGTCACTTCAACTACAAGACGTTTGATTCAGCATTTAAGGATATAGCCTATACAAAATCAGCAAATGATGAGCGACGACTCTCCAAGTCAGCGCGAGGAAAAAAGGATCGGCTCTCTCCGGTTTACGCATGGATTTAACAGCGCCCGGTAGAGGTTAATCGGTAAATTATAGTTTTTTTAAGTTTGAGAGTTTCGGAAGTTATTGGTGATTGCAGTGAGAAGTGATGAGCGGAGGTCGCTTTGAGTTTGATGATGGCGGAGCTTATTGTGGAGGCTGGGAGGGAGGAAAAGCGCACGGACACGGGATCTGCACCGGACCCAAAGGA[C/T]AAGGAGAGTTCTCCGGCTCTTGGAATTACGGGTTCGAGGTGGTCGGAGTCTACACATGGCCGAGTGGAAACACGTATGAGGGCTATTGGTCCCAGGGGAAGCGTCACGGTTTAGGTGTGGAGACCAAGGGTCACTGGATCTACAAGGGAGAGTGGACGCACGGCTTCAAAGGCAGATACGGGACGCGCATCAGTCAGGGAAGTGGCGCCAAGTACGAGGGCACTTGGAATAACGGACTGCAAGATGGTTACGGCACCGAGACCTACGCTGATGGCGGTAAGGTCGGAGAATGAACTTTTGTGAGTGCAAACTGTGAGTTGACATTTTAAGACAGGGGTTAGGCTGGTGCGTAACGCAATACCTACACCTTGGTAAGAGTCGTAAAGACTTCAACGATCCCGTTTCCGATTTAGATTCTTCGTAATTCTTTACTCACAAAGGGGGAAAATATAGTTCCAAAAAATATTAGCAATTACTGTCCTCATTTGTTGCTAAATAAG
Associated Phenotype:
Normal
| Stage | Entity | Quality | Tag |
|---|---|---|---|
| Larval:Day 5 ZFS:0000037 |
whole organism ZFA:0001094 |
quality PATO:0000001 |
normal PATO:0000461 |
Mutation Details
Allele Name:
sa32459
Status:
Available for shipment
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:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000043429 | Essential Splice Site | 127 | 781 | 2 | 6 |
Genomic Location (Zv9):
Chromosome 23 (position 35798376)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 23 | 35648029 |
| GRCz11 | 23 | 35746832 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGCAAGCCAGCACTATAACATCTTCCACTTAATGTCTTTTTGCAATTACA[G/A]GTACCTTCCAGGGCCAGTTCACAGGTGGCATGCGGCACGGCTATGGAGTA
Long Flanking Sequence:
GCGGAAGAACAAGTAGTTCCGCCTAAGCTGGCATTATTCCGATAAACTAGGGTAATTGTGATTACTTTTCTCTGTTTTTTTATTTCCAATAAACAACATATTTGCTCCAAATTACTAAATATTAATATTTTGATAAAATGATAAATTCTAGAACACACAAAGCTGGTATCAGAGATATTGATAATTTAGTATCGATCCGCACATCACCACTCAACACACCTGCAAGGATGTTTCTAGAAACGAGCTTGAGTAGCTAGCCATGTGTGTCTGATTGGGGTTGGAACTAAACTTTGCAGGACACCGGCCCTCCAGGACTGAGTTAGCACCCTTGTGCCAAACGGTCTAATCCGATTCAATGAACTTTGCTAAACTAAAAGTGTTTCCGCCAGTCTCTTAAATCAACTGAATGGATTAAAAATTGTAAAAGTCAATTGCTTAACTTGAATATTTGGCAAGCCAGCACTATAACATCTTCCACTTAATGTCTTTTTGCAATTACA[G/A]GTACCTTCCAGGGCCAGTTCACAGGTGGCATGCGGCACGGCTATGGAGTACGTCAAAGCGTTCCCTATGGTATGGCAGCAGTGGTGCATTCTCCCCTGCGCAACTCTCTTAGCTCCCTACGTAGTGAACACAGCAATGGCACACTCCTCCAGCAGGACGTCCCGGTCATCACCACCACCAATGCCTCAGGCCAGGAGACTCCAGTCAATTTACCCATGCCTCTGGGGCCATCCCGTGGTGGCTTTGCCCTCACCCTGCAAGTGGACCCAGATGCGGTCAAGCCCAAGAAAAGTGGTCTCTTCCGCCGCGGCTCATTTCTTGGCAAGCTAAAAAAGTCTGATTCCCGCACGTCTCTCTCCAGCCAGAAGAGCAAGATCAGCTTTTTGCGGACTGAGTCAGCATTGAGTTCTGCTGCCAGTGATGCAAACTCCACCATCAGCCTGGGCGAGAGCGAGGGTGAAGGCGAAGGTCATAACTTTCCCCCCGTAGAGGCAGACATT
Associated Phenotype:
Not determined