ZMP
LOC100004008
Ensembl ID:
Human Orthologue:
RBBP6
Human Description:
retinoblastoma binding protein 6 [Source:HGNC Symbol;Acc:9889]
Mouse Orthologues:
AC099701.1, AC158570.1, Gm9343, Rbbp6
Mouse Descriptions:
predicted gene 9343 Pseudogene [Source:MGI Symbol;Acc:MGI:3645198]
retinoblastoma binding protein 6 Gene [Source:MGI Symbol;Acc:MGI:894835]
retinoblastoma binding protein 6 Gene [Source:MGI Symbol;Acc:MGI:894835]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa41793 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa41793
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:
A > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000108681 | Essential Splice Site | None | 174 | None | 6 |
| ENSDART00000112677 | Essential Splice Site | 221 | 278 | None | 7 |
Genomic Location (Zv9):
Chromosome 11 (position 12239018)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 11 | 12234759 |
| GRCz11 | 11 | 12218380 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGAAAATCTCACATTATGTCTGCTTGTGTGTGTTTGCGCTCGATCTGTTC[A/C]GTGAGGCCTATGCTGCTGAGAAGAAAAAGAGGCCGTCCTTCTCCTGCCAG
Long Flanking Sequence:
CAGACACTGACAGGTTTGGTTTGTGAGAAATGTTAGAGCTGATTCTCATGGTTCTGATGTTCATCAGTGAGGCCATGACACTGCTTGGGCTTCTTCCACCCAACTATGTCTGCTTTCACTGTGGGATCCCAGGACACCACATTAGGCACTGCCCCTCTAAAGGGGTAACTGGGTTTTCTAAGCTTATGGTTGCTGTGAACTTGAGCTCTTGTCTCCATCAGTCAGATTGTTTGCTCTGTCGTTTGACTGTCACTCATGAATTCACAGGGCAGCAGCTCTGCTCCACACAAGCGCATCCGGAGGAGCACAGGGATTCCCCGCAGCTTCCTGTTGGAGGTGGACGACCCAAACCGAAAGGGAGTCATGATGGACGGCAGCGGCAAATACGTCATTCCCATCATAGACGCGTGAGTAAACTGTACTTGGCATTGCTGCTTGTTCTAGTGTTTGTGAAAATCTCACATTATGTCTGCTTGTGTGTGTTTGCGCTCGATCTGTTC[A/C]GTGAGGCCTATGCTGCTGAGAAGAAAAAGAGGCCGTCCTTCTCCTGCCAGGCCAAGCCGCTGCCCTTCTCTTCCTCAGCTGGTGCAGCATCTTCAGTCCAGGACGCCAGAGGGAAACGTTCCCGCTCCCCATCTCCACCAGAGACGCACGGAGACCAGAAGAGACCACGTCACTGAGAGACCTTCACCCAAGAGACCTGGAGCCGACGTGAGCACAGTGTATATATTGTACATAGTTTATGAATAAAACTGAATAAAGATTATAGCAGCATAAACTGTGGACTGGTTGACCTTCACACAATACAGAAACACAACAGAAAATGATCAACACATTAAGATAGAAATGATGAACAAACATGCTGCGGGAGAACCAGTGTAAAACTTTTAGTTAAAGTCTATTAAATGTTAATCTGAAAAAAATAAAACGCTGATGGAAGGAAGGCTGCTGGTGGGAGTCCCGACTGGGTCAGATGGCATTTCTGTATGGAGTTTGCATGTTCT
Associated Phenotype:
Not determined