ZMP
jak2a
Ensembl ID:
ZFIN IDs:
Description:
Janus kinase 2a [Source:RefSeq peptide;Acc:NP_571168]
Human Orthologue:
JAK2
Human Description:
Janus kinase 2 [Source:HGNC Symbol;Acc:6192]
Mouse Orthologue:
Jak2
Mouse Description:
Janus kinase 2 Gene [Source:MGI Symbol;Acc:MGI:96629]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa37192 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa14232 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa37192
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 > G
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000004255 | Nonsense | 183 | 1095 | 6 | 24 |
| ENSDART00000127639 | Nonsense | 183 | 1095 | 7 | 25 |
Genomic Location (Zv9):
Chromosome 21 (position 216116)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 238207 |
| GRCz11 | 21 | 259659 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGACCCCAGCACCGCTCATGACCCCTGACCCCTGTGTTCCTCCGCAGTTA[T/G]AAGTCGTTTCTGCCGAAGAACATGCGGGAGCACATCCAGAACCAGCACTT
Long Flanking Sequence:
CAACTGCTGCAGTTTCTCTTGACTTCAGTTTTGATTTGCTGTGTGTGTTTTATTTGTGGGATTCATAAATCTAATTATGCATTATTAAAGTTATTTCAAAGTTCAGTCTGTCTTCAGTGAAACTGAATATCAATATCAGGGCAACAGCTGAAATAAAGTCTTCGTCTTTATAATTCTGATATAATATTATATTTCCAGCACTGGAAATGTGTAGAGTCAGATCTGTAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGTGGCGGTCAGACTTCCTGAGCGGAGCGGTCAGTGTCCCCGTCAGTCTGGAGTTTCAGGAGGAGTGTTTGGGTTTGGCGGTTCTGGACATCATGCGATTGGCTAAAGAGAAGGGCAAATCACCTGTCGACATCTACAACCACAGCAGGTGAGAATGACCCTGACCTCTGACCCCAGCACCGCTCATGACCCCTGACCCCTGTGTTCCTCCGCAGTTA[T/G]AAGTCGTTTCTGCCGAAGAACATGCGGGAGCACATCCAGAACCAGCACTTGGTGACCCGCAAGAGGATCCGCTTCCGCTTCCGCCGCTTCCTCCAGCAGTTCGGCTCCTGTAAAGCCGCGCCGCGAGAGCTGAAGCTCAAATACGTGGTGAGCCTGGAGACGCTGCAGCCGGCCTTCTACAGCGAGCACTTCCGGGTCAGCGAGGCGTCCGCAGGAAGTGTCACCATCGTGGTGAGCGGAGACCGCGGCATCCAGTGGTGTCGGGCGGCGGCGCCGGAGCCAGAGGTCAGACTGAGATCCCTGTCCTCCATTAGTGTGATGAGCAGATATGATGTAGGAGAGTCTGCAGGGCAGTCAGTCAGGATGAAGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCTCATCAGGATCTGCAGGTGTACTGCGACTTCTCAGACGTCATCGACATCAGCATCAAGCAGGGGACCAAAGACGGGTCGGTGGAGAAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14232
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000004255 | Essential Splice Site | 1023 | 1095 | 23 | 24 |
| ENSDART00000127639 | Essential Splice Site | 1023 | 1095 | 24 | 25 |
Genomic Location (Zv9):
Chromosome 21 (position 208158)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 246165 |
| GRCz11 | 21 | 267617 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCGTCTGTACGCTCAGTGATGATCAATTCTCCTGATGCTGTGCTGTGTTC[A/T]GGTGTTCATGGAGCAGATGGGTGAGGATAAACAGGGTCAGATGATCGTCT
Long Flanking Sequence:
TGCTAACAGCAGGAGGGACTACACCACGTGAAAACGTCCTTTCAGCACATTATTTGAGCTGATCATGGCTTTCTGCGTTTGCTTTTCCGGTGAGCAGGTGTGGTTCCTGCATAGACGAGTACACTCGTGCGTAATATCCAGACAGCTGAATGTTGAGTGTTGTCATCTGTAACTGCAGCTGGTCTGCTGTAATCAGAACTCAGTGTTTGCATGCTGCATTAGAATGAATGGGTGTCATAGCGCAGCGCTCTCCGCGTGCAGTGTGAAAGCGGTGTATGCTCAGTCACTGCGTGTTCTTGTCTGTTTGTGATGAAGGTATGCGCCGGAGTCTCTGACCGAGAGTAAGTTCAGCGTGGCGTCAGACGTCTGGAGTTTCGGAGTCGTCCTCTATGAACTGTTCACCTACAGTGAGAAGAGCTGCAGTCCTCCAGCGGTGAGTGTCGCGCCGTCTCGTCTGTACGCTCAGTGATGATCAATTCTCCTGATGCTGTGCTGTGTTC[A/T]GGTGTTCATGGAGCAGATGGGTGAGGATAAACAGGGTCAGATGATCGTCTATCACCTGATCGACCTGCTGAAGCGGAACTACCGGCTGCCCGCTCCAGATGGGTGTCCAGCAGAGGTACAGACCCGCCGCTAGCTAATAACTGAGCTTTAAAAACAGACAAGATCCCGAAGCACAAAAACACCCAGATCACGACTAAAGCGAGTCAAGGGATCGGGCCGTTTCAAGCCTGAATCTGCATCTGATTCACCATGTTGCAAACACACCAATCACACAACGCCTAGTGGACACACAGTGCAACTGCGCTGCGGCTGTCCTGAGTTTAAATCCTAATAATGTTCGTTATTCATGACTGAAATAACACGGTAATGCTCTGTTTAAGAAAGCGAACCACCAATAAAACAAGAAGACGACGTCAGACTGACGCTACAACACACATTACAATTCAAAACCCAAATCTTAAATGACTGTCGTTCCCTCACCCTGGATTTAAACTGAACAT
Associated Phenotype:
Not determined