ZMP
rbbp5
Ensembl ID:
ZFIN ID:
Description:
retinoblastoma-binding protein 5 [Source:RefSeq peptide;Acc:NP_956539]
Human Orthologue:
RBBP5
Human Description:
retinoblastoma binding protein 5 [Source:HGNC Symbol;Acc:9888]
Mouse Orthologue:
Rbbp5
Mouse Description:
retinoblastoma binding protein 5 Gene [Source:MGI Symbol;Acc:MGI:1918367]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa13180 | Essential Splice Site | Available for shipment | Available now |
| sa24048 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa13180
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:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000061775 | Essential Splice Site | 120 | 512 | 4 | 14 |
Genomic Location (Zv9):
Chromosome 22 (position 740033)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 22 | 743186 |
| GRCz11 | 22 | 780909 |
KASP Assay ID:
2261-6190.1 (used for ordering genotyping assays)
KASP Sequence:
TCCGCTTTCCSTCCCCCATCCTCAAGCTGCAGTATCACCCCCGAGACATG[T/A]GAGTGMTGTCACTTTYTCTCGYACCCGTCAACCACCGCRRCGCACTTCAC
Long Flanking Sequence:
GTGCTTATGCAGGAGGCTGATGGGACTCTGGACTGCATCAGTATGGCTCTGACCTGTACGTTTAACCGCTGGGGAACACTACTCGCTGTCGGCTGCAATGACGGACGCATCGTCATCTGGGACTTCCTGACCAGAGGAATCGCCAAAATCATCAGTGCACACATACACCCTGTGTGCTCGCTCAGGTATACACCAAATACATACACACTCCCCATCTGCTCTCTCAGTTACACACACACACAAATAATTAGTATGTGAGTGTGTGTTTGCTCTGATGTGACCATGTGGGCTTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTCCTGCAGCTGGAGTCGGGATGGTCATAAGCTGGTCAGCGCCTCCACTGATAATATCGTCTCCCAGTGGGACGTCCTGACGGGAGATTGTGACCAGCGCTTCCGCTTTCCCTCCCCCATCCTCAAGCTGCAGTATCACCCCCGAGACATG[T/A]GAGTGCTGTCACTTTCTCTCGTACCCGTCAACCACCGCGGCGCACTTCACATTGTTTTTACACATCGCTAAATAACACAAACGGATGTCCGATTGACTTTTGTGCTCTTCTGTAGATTACATTTAGATTACTTTTGTAGATTACTTTTGTGGTCTTTTGTAGATTACATTTAGATTACTTCTGTAGATTACATTTAGATTACTTTTGTAGATTACTTTTGTGGTCTTTTGTAGATTACTTTTAGATTACATTTAGATTACTTTTGTGCTCTTTTGTAGATTACTTTTAGATTATTTTTGTGATCTTTTGTAGATTACTTTTAGATTAAGATTACTTTTGTGATCTTTTTTAGATTACTTTTAGATTACATTAAGATTACTTCTGTGCTCTTTTGTAGTTTACTTTTAGATTACTTTTGTAGATTACATTTAGATTTTTTGTGGTCTTTTTGTTGATTACTTTTAGATTACATATAGATTACTTTTTTCTGTTTTTTTAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa24048
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000061775 | Nonsense | 220 | 512 | 7 | 14 |
Genomic Location (Zv9):
Chromosome 22 (position 736935)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 22 | 740088 |
| GRCz11 | 22 | 777811 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GATGGTGTGTGTTGTGTGCCCCCAGTTGTTTCCTCATCAACACAGCAGAT[C/T]GAATCATTCGAGTTTACGACGGTCGAGAGATCCTGACCTGCGGCAGAGAC
Long Flanking Sequence:
TATGTTTGTGCTAAAAATATAAACCTTAAAATAAGGATGGATCAGTGAATTGTGAACAACTTGCTGCCATTGTGCATGTATGTCATCATGTGATCCATAAAAGTCACTAAACTATTTACAATATTTAAAACGTATTCGATGTTTGTAATCTAATTAGGTAATCCAGATTACATATAATCTATTACTACCCTTCTCTGATGTGTGTTTTTGAGTGCGTGTGTATGTGTATGTTTGACGTTAACTTGTGTGTTTCTGTCCAGATTCTGGTTTTGAACACAGACACTCAGGATCTGGTGGCGTCCTTCAGAGTGACCACTGGAACCAGTAACACCACCGCCATCAAGTCCATCGAGTTTGCTCGCAAGGGCAGGTCAGACATTATTATTACCCACAGTTCCACACCACCTTCACATATATATATATATATTTGATGTTGTGTGGTGTGTATTTGATGGTGTGTGTTGTGTGCCCCCAGTTGTTTCCTCATCAACACAGCAGAT[C/T]GAATCATTCGAGTTTACGACGGTCGAGAGATCCTGACCTGCGGCAGAGACGGAGAGCCTGAGCCCATGCAGAAACTGCAGGACCTGGTCAACAGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAATATAAGTATAAGTATAAGTATAAGTATGAGTGTGTGTGTGTGTGTTAGGGTGTATTTTACCATGTGAATGAGTGTGTGTGTGTGTGTTGGTCTGTGCAAGTGTGTTTTTCTTTGTGTTGTTGTGTGTGTTTGCTTCTATGTGTGTATGTGTATGTTGGCGTATGTGTTAGGCAGTCAGAAATAGCTATACTAGGAGTGTTTAAGTTTAGTATATTTAGCAAAACTCACCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCATGCGTGCAGGACGCCGTGGAAGCGCTGCTGTTTCTCCGGTGACGGCGAGTATATCGTGGCGGGTTCTGCGCGTCAGCA
Associated Phenotype:
Not determined