ZMP
cbsb
Ensembl ID:
ZFIN ID:
Description:
cystathionine-beta-synthase b [Source:RefSeq peptide;Acc:NP_001014367]
Human Orthologue:
CBS
Human Description:
cystathionine-beta-synthase [Source:HGNC Symbol;Acc:1550]
Mouse Orthologue:
Cbs
Mouse Description:
cystathionine beta-synthase Gene [Source:MGI Symbol;Acc:MGI:88285]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa27348 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa38725 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa27348
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000026275 | Nonsense | 116 | 597 | 3 | 16 |
| ENSDART00000121665 | Nonsense | 116 | 597 | 3 | 15 |
Genomic Location (Zv9):
Chromosome 9 (position 9443335)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 9243886 |
| GRCz11 | 9 | 9221923 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCAGCTTTTTCTCACAGGACAAAGACGTCCGGTATCCTCCCCAACATCT[T/A]AAGCAAGATTGGAGAGACCCCAATGGTTCGCATGAACAAGATTCCCAAAG
Long Flanking Sequence:
CCAATATTTGTGAGCATGATAGATAGCATTGTTATTTTATATGAGGAAGGAAGATTCGGTAGTTTAATTTGAGCAAAAACAACAGAAACATTATTTAAAATTTTGTTCCTGTTTTTCTTTATTCATGTATTTTGCTGGAAATATTGATATGAACATGCCCCATACTGTCAAATTTATGTTTAAATATAAAATCTGTAATCAAAAAGAAATATTTTTTTCTACACACACTCTTTAAAAATTCAAAAACATGCAGGTAACCTCTGTTTAACAACAGTAGTCTTTCAGGAAGAAAGTGTAACATTAAGTTACCACACCCTTACCATACTCAGAAATCACTACCAATCTGCAGACTCACTGTGATTCAGTTCAGTCAGTCGTGTTGTGGTTTACTGTTGTTTGACTGTTGTCTTCATGTGTGAGTGTTTGTGGTTTTGTTACCGGGTTACCAAATGCAGCTTTTTCTCACAGGACAAAGACGTCCGGTATCCTCCCCAACATCT[T/A]AAGCAAGATTGGAGAGACCCCAATGGTTCGCATGAACAAGATTCCCAAAGCTTTTGGCCTCAAGTGTGAACTCTGTGAGTATGATATGAGTGCATGTGTGTCTTCATACCTGGTTTCAGCAGCATGCTGTGTCGTGTCCCATGAGGACATGCAAGGTCACGTGATCTTTTAAAGGCAGCCTGCAAAAGTGCATGTGTTGGCACGTGTGTCTAGGTAGGGGAGTAATGGTTGTGTTCTGGAAAGAGGAATGCGGGTGTTGGGTTTCGTTCTCCTTAAATAAGTAAGGATGGGAAGGAGTGAGTGTTTCCAGATTTTTTTAAACTAGGACACGGTTGATTTTGAGTGCAGAAAACTGTTAATTCAAAGGTGCTGAATGACGTTTTTGACTTTTATAAAACAAAAAAAAAACACAATTTGTTTGCAGATATTTAGAAAATATGCAAAGTCAGGGTAAGTGAGACTTTGGCCAGGGCCGTAGATTTAGCATGGGCGAAGTAGAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa38725
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:
A > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000026275 | Essential Splice Site | 312 | 597 | 8 | 16 |
| ENSDART00000121665 | Essential Splice Site | 312 | 597 | 8 | 15 |
Genomic Location (Zv9):
Chromosome 9 (position 9427637)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 9228188 |
| GRCz11 | 9 | 9206225 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCCTTGCTTTGCATTATTAATGAGATTTTTAATTTCTTTTTTTATTCTTC[A/C]GATCATTGGAGTGGATCCGGAGGGCTCTATTCTAGCTGAGCCAGACGAGT
Long Flanking Sequence:
TCAAATATGTTGATCATCTAATCATGCCTTTGAGCCAAAGGACATGAATCGCTCGCATATGACTAATGCTGATTTTTGTGTTTGCCTTCTATAGGTAAAATAGACATGCTGGTGGCAGGAGCTGGCACTGGTGGCACCATCACTGGCATCGCTCGCAAGCTAAAGGAGAAATGCCCTGATATCAAGGTGAGTCTTAAATTGCTTCATAAACAATGGTATAGTAGTCAATCAGTGTGTTTTCTTCAGTTTCAGAATTTAATGTAATTATTTGATTTGATTTATATCAAATCTTATTTATGCTGTTAAATTATTAAATATCATTATAATTATTCTAATCTGTTTACTTTTTTATTTTGTGTGGTACAAAATGATCAATTATTGTAAATGAGTTTCCTTTCCTAGATTAAAATCAGTACACCACATCTCTTAATAATTATTACTTTGTGAAGACCCTTGCTTTGCATTATTAATGAGATTTTTAATTTCTTTTTTTATTCTTC[A/C]GATCATTGGAGTGGATCCGGAGGGCTCTATTCTAGCTGAGCCAGACGAGTTGAATAAGACAGATAAGACTCAGTATGAGGTTGAAGGCATCGGGTATGATTTCATCCCCACTGTTCTGGACAGATCTGTAAGTGTGCATTTGCACAGTGGACTTTTACATAATCAATTACTGATGGTAGCTCTTTACAAAGACCCCCCCCCCCCTCTCCCTTAAAACATTCTAGCTTCATAGTAGTTGCCACAAGAAAGAGTGAACAGGAAACCAATTTAAGTGCTTTGGTATAATACAGAAAAGTATGATTATCTTGTTTTGTACCACTTTACACTATATTTTGGATATTAATGATGATGGCTTAGATGAGCAGATGATCTTAGGTGACTGTTTGAATGCATGCAACCACATGAGCATTTACACTATGAAAGAAATCTGCATGTATGTGTTTATGGACAACCTCTGGAAGGGTTTGAAAGTGGACGCTTGTTTAATAATAAACGTTTTT
Associated Phenotype:
Not determined