ZMP
LOC556557
Ensembl ID:
Human Orthologue:
RDH8
Human Description:
retinol dehydrogenase 8 (all-trans) [Source:HGNC Symbol;Acc:14423]
Mouse Orthologue:
Rdh8
Mouse Description:
retinol dehydrogenase 8 Gene [Source:MGI Symbol;Acc:MGI:2685028]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa20146 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa20146
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000016405 | Essential Splice Site | 147 | 310 | 4 | 6 |
Genomic Location (Zv9):
Chromosome 3 (position 54157142)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 53264457 |
| GRCz11 | 3 | 53519120 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TATAAGCCGCAAAAAATAGTTGAATACTGAAAGTTTTTCCTTCCCCATGC[A/T]GGGCTACTCTTCAATGATTTGTATGCTGCTTCCAAATTTGCTGTAGAAGG
Long Flanking Sequence:
TTCCCTTTTATCTGCAACCAAACAGACCAGGATAAAATTTATTTGTGCTCAATTGAATTAAACCCTCATTAAAAGACATTTTTTTTTAAATATCTTCATTCATGTTCGGCAAAGACACATAAATGATTGAAATTGCATGGAAGTGTGAAAAATGTTTCCTCCTCATTTTTGGTTGAACTGTACTTTTAAACGTATGTATTTTGAATATTTTCTGACATCGTGTTTGATTGTTTTGTAGTGAATAATGCCGGCGTGGGTATGATTGGTCCTTTGGAGTGCCAGAGTATGAGCTCAATGCAGGATCTCTTCAATACGAATTTCTTTGGTCTGGTGAGACTGGTCAAAGAGCTGCTGCCCCAAATGAAGAAGCGTCAGAGTGGACACATCATAGTGATGAGCAGCGTTCTGGGCATACAGGGTAAAAAAAAACAAAAAACACAGCTAATTTATTATAAGCCGCAAAAAATAGTTGAATACTGAAAGTTTTTCCTTCCCCATGC[A/T]GGGCTACTCTTCAATGATTTGTATGCTGCTTCCAAATTTGCTGTAGAAGGATTTTGTGAGAGTCTTGCTGTACAAGCTATGAAGTTCAATGTCAAGTGAGTTCATAATACATATAAATAATTCACTGATTTAAAGGGATGGTTCACGCAAAAATAAAAATTATTTTACAATTTACACACCCTTTACTTATTTAAAATCTACTTTGTTGGTTCGGTCGTCCTTCCGTCTGTCCGTTTGTTCGTTCACTTTCTTTCAGCTTAGTACCTTATTTAGAATTCACCAAGCAGAATGAACCACCAACTATTCTGGCATGTTTAACTACCGAGCCACAATGCCAACCAAACCATTTCAAAGTTTGCTTTTCTGTTGACCCTAAAAGACAATATTCTGAATTGTTTTTCCTACTATGGAAGTCAATGGGTGACAGATCAGCAAGCATTATTTAAAATAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG
Associated Phenotype:
Not determined