ZMP
cbsa
Ensembl ID:
ZFIN ID:
Description:
cystathionine-beta-synthase a [Source:RefSeq peptide;Acc:NP_001104702]
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 |
|---|---|---|---|
| sa10945 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa10945
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 |
|---|---|---|---|---|---|
| ENSDART00000053932 | Nonsense | 244 | 571 | 6 | 15 |
| ENSDART00000126746 | None | None | 84 | 5 | 6 |
The following transcripts of ENSDARG00000053500 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 1 (position 28010679)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 28276237 |
| GRCz11 | 1 | 29080069 |
KASP Assay ID:
2259-0660.1 (used for ordering genotyping assays)
KASP Sequence:
TCTCATATTCTGGACCAATATCGCAATCCCAGCAACCCCCTGGCTCATTA[T/A]GACACCACTGCAGAGGAAATTCTGGAGCAATGTGATGGTAGTTGTTTTANNT
Long Flanking Sequence:
TTATTAAAACTATTATGTTTATACATATACATATACTGATACTTTTGTCATCTACATTTCACCATTCCAAGTATGAATCATTTTGAATGTTATGTTAATCATAGTGCCCTTTTGTAGTGTTTTTTTTTTCCTTATATATGCGCAAAATATTCAGGTCTTAAGGAGTTTGGTTGTGTTCACTTTGTGCAGGTATTGGTCTTGCACTGGCTGCAGCGGTAAAGGGTTATCGCTGTATAATTGTTATGCCTGAGAAAATGAGCATGGAAAAGGTAAAATTAATTCCAGTTGTAGCAAAACCTGATTTGATGAAGTGATACAAGAGTCTTTTCATAGGTTGATGTGTTGAGAGCTTTGGGAGCAGAGATTGTCCGAACACCCACCAGTGCTCGGTTTGACTCCCCAGAGTCACATGTGGGAGTGGCTTGGCGCTTGAAAAATGAGATCCCTAACTCTCATATTCTGGACCAATATCGCAATCCCAGCAACCCCCTGGCTCATTA[T/A]GACACCACTGCAGAGGAAATTCTGGAGCAATGTGATGGTAGTTGTTTTATTTTTTCATTGTTTCTCTCTGACTTTGTTCTTGTCTTTTTTTGCTTTTGAACTTAGCAGCACAAATGGAGTTCACTCTTGCTGTGTTTGTCCTGTTGTCTTAAATAATTTACTCACCTTTGTCCAGGGAAAGTGGATATGCTGGTGGCAGGAGCTGGCACAGGTGGCACCATTACTGGCATCGCTCGGAAATTGAAGGAAAAGTGCCCAAATATTAAGGTATACATAGCTCGTTTTGTTTGTGTGTGTGTGTATATATATATATGTGTTAATTTTATAAGAGCATGCTGCAATTTTGTAATCTTACCACTTATAAGTTTGTGATTGGGCCCAAGTAATGTGAATGGGCCTGATGTGGCAGGGTAAATCTCAACAATGAAGTCTGTCTGTGTTTTGCTAGATTGTCGCTGTGGACCCAGAGGGCTCAATCCTTGCTGAGCCTGATGAACTGA
Associated Phenotype:
Not determined
Mutation Details
This allele has been removed from public view.
Allele Name:
sa25593
Status:
Less stringent filtering
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:
n/a
Mutation:
T > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000053932 | Essential Splice Site | 393 | 571 | 10 | 15 |
| ENSDART00000126746 | None | None | 84 | None | 6 |
The following transcripts of ENSDARG00000053500 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 1 (position 28015196)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 28280754 |
| GRCz11 | 1 | 29084586 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAGGACAGCGGTGTGTTGTGATTTTGCCAGACTCAATTCGCAACTACATG[T/A]AAGTATATTAATATTAATAATTCCTTACATTTATTTAGTGCTTTTCTGGA
Long Flanking Sequence:
TGCCAGGTTTCTGTGAGACAGAGTGCATTAAGATTGTTATCTTTTATTTCATTTATGATAAGTGCTTTAGGTGCTAGTGACCTAATGTCTAGGAGACCAAGCTTTACAAAATTTGTATTTTCACTTTTTAGTTTCTGGTTTGATTCTTAATAGATCGAAGTCTCTATGGGGGTAGCCAGACATGTATTACTGTGATTTAAGTGGGACGAACAAGAGTTTAGTTTACGAGGCATAGTTCAAGAAATGTTTTTAAGCAAACCAGAAAACCTAACTTATGCATTTACATATATGTTAACAAATTGTGGCTTAATATGTATGATAAGTAATATCATTATTGTAGTTTGTACCTGTAAGTATACACTGCATTGTTTGCATTTTTGTCTCTTCTGTCAGGTGGTAGTTCAGGCACTGCCATGGCAGCTGCAGTAAAATTTGCCAAAGAGCTGAAGGAAGGACAGCGGTGTGTTGTGATTTTGCCAGACTCAATTCGCAACTACATG[T/A]AAGTATATTAATATTAATAATTCCTTACATTTATTTAGTGCTTTTCTGGATTCTCAAAACACTTTACACATTTTTGGTGAGAATCTCAATTTACCACCAGTGTGCAGTATCCACCTGGGTGACGCGATGGCACCCATATTGTGTGCCATCGCAGACCTAACAGTAGCTGATAGGTGGAGAGGAGAAAGTGTGATGAAGCCAACAATGATATAGGGATGCTGGGAGGCCATGAGATAGAGACCAGTGGGCGAATTTTGCCAGGATGCCGGGGTTAAAACCCTTCTGTTTTTCGAAGGACATCCTGGGATTTTTAACAACCACAGTGTGTCAGGACTTCGGTTTACCGTCTCTTCAGCAAAGACGGCAGCGTTCACTGAGCAGTATAGAGTCCCTACACAGACCACAGGTTGAGCGCTCCCTGCTGGTCTCACTAACACCACTTCCAGCAGCAACCTAGCTTTCTCATGTGGTCTCCCATCCAGGAACTACTGAATTGCAGA
Associated Phenotype:
Not determined