ZMP
rbl2
Ensembl ID:
Human Orthologue:
RBL2
Human Description:
retinoblastoma-like 2 (p130) [Source:HGNC Symbol;Acc:9894]
Mouse Orthologue:
Rbl2
Mouse Description:
retinoblastoma-like 2 Gene [Source:MGI Symbol;Acc:MGI:105085]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa14836 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa14836
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000073432 | Essential Splice Site | 615 | 1079 | 14 | 22 |
Genomic Location (Zv9):
Chromosome 25 (position 37109382)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 35516998 |
| GRCz11 | 25 | 36021937 |
KASP Assay ID:
1641-0496.1 (used for ordering genotyping assays)
KASP Sequence:
AGCAGCAAGACTGAATTCAGCGGCAACATCGCAGCGGGAGCAGGAAAAGG[T/C]GATTTACAGTACTTGMAKGCGAACTGAACGCAAGWTAATATCTAWRAACA
Long Flanking Sequence:
GTGACGTCACGGACACTACGTCCATATTTTTTCAAGAGTTGACACCTAGCTGATGATTGATTATAAAGCTTGTTTGCCATGCTGTCCCAGGAGAGACCCCTGAGCTCATAAGATCCTCGAGCCTGGGGCTCCCTCCCGTTTGCAAGGCGAGAGGGGAGTTTGTGCTCTGGTAGATCTGGAGAACTCCCCTGCGGTAGTAGCTAATGAACAGAGAGTGATCTCTCTTAAGAGATAACTACTTACTAGGAACATGTCTATGGTGCCGATTTGAACTCGCACGCGATCCTCTCCAAATTAGTTTATAGATACACTTCACTTACAGTCTATGGTTTTGACACATTACAAATATGTGGCTAAAAAATAACCAGGGTTAAAATATGAATATGCGTCTGACAGGTAATGCCACCTCAACACCTAGAGGACGGTTCAGGAAGCAACGCAAACACCCCAAGCAGCAAGACTGAATTCAGCGGCAACATCGCAGCGGGAGCAGGAAAAGG[T/C]GATTTACAGTACTTGAATGCGAACTGAACGCAAGATAATATCTAAAAACATTCACTGAATCACATCTAAAATATTCATCTGCCATTTCCCCTCAGGAGTTTCTCCGTCCCCTACATCTCTCCACGACCGCTACAGTTCTCCCCCTACTGGCACAGCAGTTCGTCGTCTTTTTGTGGATGGAGACACGACGCCAGAACCTGCTCCACCTGTCAAAGTGGCACCGCCGTCTATAGTCAGCTCCATCCCAGCAGGACAGACTGTGGTTACGATGGCAACAGCTACTGTCACAGCGAACAACGGCCAGACTGTTACCATACCTGTTCAAGGTGCGAAATTATCGACAAAATCAAAACATTCATTTAAATCATTCAGGCACAAGCAATTATATCATCTGCCATCTTTATTAAAGATCAATTGTAATTAATTAACTGTACAATACTTAACTGTATTATACAATGCTATTTTCTCTACTGAAAAAAACAGCTTAAACCAGCCTAGGC
Associated Phenotype:
Not determined