ZMP
cbfb
Ensembl ID:
ZFIN ID:
Description:
core-binding factor subunit beta [Source:RefSeq peptide;Acc:NP_954679]
Human Orthologue:
CBFB
Human Description:
core-binding factor, beta subunit [Source:HGNC Symbol;Acc:1539]
Mouse Orthologue:
Cbfb
Mouse Description:
core binding factor beta Gene [Source:MGI Symbol;Acc:MGI:99851]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa5910 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa5910
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000059961 | Essential Splice Site | 55 | 187 | 2 | 6 |
The following transcripts of ENSDARG00000040917 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 18 (position 22775919)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 18 | 23006142 |
| GRCz11 | 18 | 22995208 |
KASP Assay ID:
554-3866.1 (used for ordering genotyping assays)
KASP Sequence:
AAGGCAGGCGCGCTTCCAGAACGCGTGCCGTGACGGCCGCTCAGAGATAG[T/C]GAGTACACGCACCTCACAGCACCGGACAATTACAACACTGACCCTGCGTT
Long Flanking Sequence:
GACATAATGAAAGAAGTAGCAGTGAACATCAGCTTTTGGCATAATTGTTATACATATAGTTTACTTTTAATTCCAATTGATGATATCTCACTTTAAAAAGGCGCATCATGTTTTTGTGTAGCCTAAAAGTATGCTTTTTTAGTTTTTATTTGAGTAACCAAATTATTAGTTTACCTCAGGTCACACAGGCTTTATAAAATCCATTAAAAGCTGAAAACCAAAGTCAGAATGTGAAAAAAAATTATAGCCTATATATCAACCGACTTTCTCTACAGTTTGATTTAAAATGTTGTTCAAACATTAAAATAAATCTTGAAACTGAGCATTAAGAGACGTGTGTGACAAGTTACAAAAAAAATTGTTATATAGGGGTAATAACACTCTTCTGTGCCTTTTTCATCCCTGTTTACAGATTAAATACACCGGTTTCCGCGATCGGCCGCACGAGGAAAGGCAGGCGCGCTTCCAGAACGCGTGCCGTGACGGCCGCTCAGAGATAG[T/C]GAGTACACGCACCTCACAGCACCGGACAATTACAACACTGACCCTGCGTTCATGCAGCCGACGCAGTATTTAAACACTGCCGTGAACATGCATCTCAAACTCTGTCACCCAAAAACCATCTGAATACTTCCTTATATTTTTTGAGCGCCAAAGCAACAAAGATAGCATTTATGATCCATATTGTATAATTGTTTAATGTGTTTAATTTACCCAGTTGTCAGAACTGTAAACAATTCAACAATGCGTAAAATGCCTGTCGGCTTTTAATTGTAATCAGAAATGCGTCTCACGGGTGCAGATGAACTCGGACGTGTCTAATTTACAGTCTGCTTAAAACAGGCAGAGCGTATTAAGAGTCTTTCTCCTATTTATTAGATCTAGTAGCCTAAAATATTTAGCCTTTTAAAATTTTAAAGTTAGCTATTGACTGAATATTTTAGAGTTACGCACTATGGTTTGATGGAGGCCTGTTTATCCCTTTTTTAAATCACATATCTTCA
Associated Phenotype:
Not determined