ZMP
khdrbs1b
Ensembl ID:
ZFIN ID:
Description:
KH domain containing, RNA binding, signal transduction associated 1b [Source:RefSeq peptide;Acc:NP_
Human Orthologue:
KHDRBS1
Human Description:
KH domain containing, RNA binding, signal transduction associated 1 [Source:HGNC Symbol;Acc:18116]
Mouse Orthologue:
Khdrbs1
Mouse Description:
KH domain containing, RNA binding, signal transduction associated 1 Gene [Source:MGI Symbol;Acc:MGI:
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa23547 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa23547
Status:
Available for shipment
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For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000103471 | Essential Splice Site | 272 | 352 | 6 | 9 |
The following transcripts of ENSDARG00000070475 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 19 (position 31600428)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 19 | 30767717 |
| GRCz11 | 19 | 30355030 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCCGCGGATGCCTCCACCCCCTCAGACCCAAGAGTCCTATGATGAATATG[T/C]ACGTGTTTTATTTAAATAACTATCCTCTGAATTTGCTTTGAAGATATTAG
Long Flanking Sequence:
ACAGACACTCCGTGATTTCCGTGTTTCTTGAGACATGTTAATAAGCTGTGTGCCTTTCTCACAGGACATGATGGATGACATTTGCCAGGAGCAGTTCATGGAGATGAAGTTTCTGAATGGCGGTCAGGAACACGGAGGTAGAGGCCGAGGAGGACCACCCATCAGAGGCCGTGGAGGTCTTCCTCCTCCTGGAGCACCCAGGTAACCCATACACCTATGTAAAATGCATTGCGACTGTTCTAGTTTGAGCTGCTTTAAAAATTTAGAGGAGTAGAGGAATAATAATCTTCATCCCTGCAGGGGTCGTGGTATGCCCCCACGTGGAGGTGGCCGTGGCGGACCCCCTCGTGGTGGAGCTGCAAGGGGAGCTCCTGCAGGCAGAGGTGGACCATCAGCCCAGCTGCCCAGAGGAGCTGCTTCAAACCGTGCCCGTCCACCTGCCCCTGGCGCTCCGCGGATGCCTCCACCCCCTCAGACCCAAGAGTCCTATGATGAATATG[T/C]ACGTGTTTTATTTAAATAACTATCCTCTGAATTTGCTTTGAAGATATTAGCCCCTTTCACACTGCAATCAAGATAAATTACTTGAATGCATATTTGTGCCATTTACTTAAGCAATTATTTTTTTAAGACACAATCCATTTAGACGCCAGTATGCTGTTGTGAATTTGATCATTGGAAAACACTTTTCCCAATGCTATTTTCTTTATCCACCTATACTATGTCAGTCAGATCTGACCGTTATTGAAACTTCTGAGTGACGGGTTTAGGGAGATAATTGTACTGTAATTAGTGTAGTACACTGCAGCACTGATGAATGATAGAGGCCAGGGTAATGAGCATAAAATGTGGTATAATAGCAAGCCTTTTTATTTCCCCTCACTATAACATTAAAATGCATTAGAGCTTAATATATTAAGATCTGACAAACCTGTATAATTTGTCCTAAGCAGATGTTTTGCATCAGTGCACACATGGAAAGTCCAAAAGAAATTCTCATACCG
Associated Phenotype:
Not determined