ZMP
jph1b
Ensembl ID:
ZFIN ID:
Description:
junctophilin 1b [Source:RefSeq peptide;Acc:NP_001037813]
Human Orthologue:
JPH1
Human Description:
junctophilin 1 [Source:HGNC Symbol;Acc:14201]
Mouse Orthologue:
Jph1
Mouse Description:
junctophilin 1 Gene [Source:MGI Symbol;Acc:MGI:1891495]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa13453 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa13453
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:
T > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000099078 | Nonsense | 106 | 673 | 1 | 6 |
The following transcripts of ENSDARG00000038826 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 2 (position 30038553)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 2 | 30340188 |
| GRCz11 | 2 | 30323721 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTTAAGGGTCGCTACGGGGTTCGCCAGAGCCTCAATACACCTGCCAGGTA[T/A]GAAGGCACATGGAGTAATGGACTGCAAGACGGATATGGGGTCGWGACGTA
Long Flanking Sequence:
GTGCGCGATCCTGCCTCTCACTCACCGCCAACACTCGCACCGATGCGCGCGCTCCGCCAGCACCTCCAACAGACAGCACCGCACCGTACCGCAGTCTGACATTCACCCCATTTACTGCTGTTGTCGTTAAGCATCCGACCGGCCATCGAGACGCAAACTCTTTCAATTCAACCCTTCATCTGAATGACGGGCGGACGGTTCGACTTCGACGATGGCGGCACTTTCTGCGGTGGATGGGAGGACGGAAAAGCCCACGGACACGGCATCTGCACCGGCCCCAAAGGCCAGGGCGAATACTCCGGGTCCTGGTCCAACGGCTTTGAGGTAGTCGGGGTTTACACCTGGCCCAGCGGGAATACATACAAGGGCTACTGGGCTCAGGGGAAGCGGCACGGTCTCGGCGTGGAGTCCAAGGGGAGGTGGCTGTACCGCGGGGAGTGGAGCCACGGATTTAAGGGTCGCTACGGGGTTCGCCAGAGCCTCAATACACCTGCCAGGTA[T/A]GAAGGCACATGGAGTAATGGACTGCAAGACGGATATGGGGTCGAGACGTACGGGGATGGGGGTGAGTTCAGCCAAACATCACTTGACCTATTTAGTGTTCTTTAAAGTCTTGCGTGTGTCATGATGATGATGATGCTGTTGCTGCTCAAATCAGGTCTCTGTTTTGTAATGTATATCTTTATAAAGCTTAGAGATGTGATGTATAATGATAAGAAGATTTTTTTTATCTTCTTTAAGTGTGTTTGATTTCTTGAGTTATTTCCAGTGCCTGACTTAGATTTTACCCCTAAATCATGCTCTACAGATTTATGAAGCACTTTGCCCATGTGGTTGAGTTGATGTATGGCATATAACTGGTCAGCCGAAGCTGCTCACAGAGGTCATGGCTAATAATAGTTACATCTGCAACATGTCAAATGAAAGCTCTACTAGTAGACTAGCAGACAACCTTTTGTCTCTGCTTATTTCTTTTGAACAGAACATTTTACGTTGCTAGATGA
Associated Phenotype:
Not determined