ZMP
sbds
Ensembl ID:
ZFIN ID:
Description:
ribosome maturation protein SBDS [Source:RefSeq peptide;Acc:NP_957415]
Human Orthologue:
SBDS
Human Description:
Shwachman-Bodian-Diamond syndrome [Source:HGNC Symbol;Acc:19440]
Mouse Orthologue:
Sbds
Mouse Description:
Shwachman-Bodian-Diamond syndrome homolog (human) Gene [Source:MGI Symbol;Acc:MGI:1913961]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa331 | Nonsense | F2 line generated | Not yet available |
Mutation Details
Allele Name:
sa331
Status:
F2 line generated
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 > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000038534 | Nonsense | 129 | 231 | 3 | 5 |
Genomic Location (Zv9):
Chromosome 15 (position 1884142)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 15 | 1931264 |
| GRCz11 | 15 | 1894836 |
KASP Assay ID:
554-3398.1 (used for ordering genotyping assays)
KASP Sequence:
ACCTTATAGAGAGAGCCATGAAGGACATCCACTTCTCTGYTAAAGCAAAC[A/T]AAAGCACTAAACAGCAGGTCAGTAGATATTGATCATTGGAGGATCTGTAG
Long Flanking Sequence:
CTGTAATTTCTGTCAGCTTTGTGTTTGATTATAGAATTAATAAACTATTACGGCTCATAGCTATGTTTTGTGTCTAATTTTTATGTTTTGGTGCAAGTAGCCGTGTAATAAGTAAGATCAAGTACATCCAGGATAGTTGTTTTCACAGAAACAGTCTTTATAACGGGCTGCTGATAAACCTGGCAGACTTTATTCTGCGATAACAACCTTCTGCATATACTTGTTTCCCTAACATAGCAATCTATTTAGCAGGAAAATGTTGTTTACAAATCTTTAACGGTTTCATAAATCGATGTTATTTTTGTCTGTGCTTCCAGATTTTGTCCAAAGGAGAACTGCAGGTATCAGACAAGGAACGACAGAGTCAACTGGAGCAGATGTTTCGTGATATTGCAACTATTGTGGCTGAAAAATGTGTGAATCCTGAGACCAAGCGGCCTTACACAGTGAACCTTATAGAGAGAGCCATGAAGGACATCCACTTCTCTGTTAAAGCAAAC[A/T]AAAGCACTAAACAGCAGGTCAGTAGATATTGATCATTGGAGGATCTGTAGCTATGCTTCCATTCAAAGATGTGAATTAGATTCATGCACAAAACTGGAATATTGCATAAAACTTTAGTGAATAAACCAGCGTTTAAATAGAACAAAATCATCACTTGCTGATAAACTGGAGCAGATATCAGTCAGAGAAATGTAGTTTAGTGTGTTGGGATTTGCTACGGTGGTGTTTTTTTCTGCTCTAATAAATGAGTTGCGCCTCAGAAGCCAAAACGCAATTAATGTTGTGGCTTTTGGAGGCGTGACACGCTCTTTGGGAGCACAGACAGATGCTCAAGACGGTTCTGGTGAGAATAATAATACTACTGAAGCACTGTGATGACGGACTGACAGCTGAGGGCTTTTAGACAGACCGGAGCAACATTTCAGATGTTTTACACTGTGCTGGAAACGCTGCAAAGTCCATCAATACATCCCATCACACACATTTCATCATCACATGAT
Associated Phenotype:
Not determined