ZMP
OCRL (1 of 2)
Ensembl ID:
Description:
oculocerebrorenal syndrome of Lowe [Source:HGNC Symbol;Acc:8108]
Human Orthologue:
OCRL
Human Description:
oculocerebrorenal syndrome of Lowe [Source:HGNC Symbol;Acc:8108]
Mouse Orthologue:
Ocrl
Mouse Description:
oculocerebrorenal syndrome of Lowe Gene [Source:MGI Symbol;Acc:MGI:109589]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa22515 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa22515
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 |
|---|---|---|---|---|---|
| ENSDART00000085402 | Essential Splice Site | 249 | 952 | 7 | 23 |
| ENSDART00000144715 | Essential Splice Site | 250 | 953 | 7 | 23 |
Genomic Location (Zv9):
Chromosome 14 (position 34821277)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 14 | 33507792 |
| GRCz11 | 14 | 33848106 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCAAAGAAAGGCCACCATCTGTACAAAATGCCACACCTGTCAGAAATGAG[T/A]AAGTGCTACTGGTCTTAAATGCAGAAACTTGTGGATTTTCAGAAACTGTT
Long Flanking Sequence:
CTTTAGCTGAGAGGAGTTCACTGCCCAGGAAGATGGAGCCAGTTGTACCTGCTCCAGTTAAAGACTTTGTTCCAGTTCCACCTCAGAGAGGAACCTCCAAATCCTTCTCAAACAACATCAACAACAGCACTTTAGCAAATCCCTCAAACACAGGTATAAAAATGGCATACATAATGCAAGAACATTACAATATTTGCATTGGTTTACAGGGACATACATTTATCACAGTAGTTGCTTGTGGAAACTCAGTGACCCTATCTGTACCTGCAGATTCCACCCGCTCGCTTGCCACAGATTTTGGCTTTGAAGAAAACTTTAACCACGTTTTAAAAGTGGAAGAGAAGAAGAACAAGCAGAATCGTTTAGTTGCACAACGAGAGCCACCACCTCCACCAATTCCCCCTCTTCCTCCTAGGAAAGGCACAAATACATCATTGACAGGCCCAGCTACCAAAGAAAGGCCACCATCTGTACAAAATGCCACACCTGTCAGAAATGAG[T/A]AAGTGCTACTGGTCTTAAATGCAGAAACTTGTGGATTTTCAGAAACTGTTTTTAAAATGTTGTGCTCCTTGTCATTGCAGATTTCAGTCTGTAGACCGATCTGTTTCCTGGTCTGAAAGCCCGTCCAACTCCACCATAAGACAGGCCATGATGAGCAGCCATGCAGGGTCAAGAGAAGGTTTGCTCAAGTATCGCCTCAGCAAGAAAGAGAAAGAATATGTGGACATTAAGAACTTTAAGTGAGTGTCAGTTTTCCATGTGCATTTTGTCAGTAAAGTCAGCTCTTGTAAGCATCCAGCACATGGAGTTGAAGCAGCATTTACTACACAGAGTTGTTTTTTTTTGACTAAGGATGCAAAATAGCATTTAAAGTTGAAGTCTGCATATCTGGATGAAAATGATATTGAAATAATCGCTCTGTGATAATGACAGCAGTTTGCATCGCTTGTCAGTGAACTACGGCTCTGTGTAGTTAATGCTGCAAATGAAAACACCACGTG
Associated Phenotype:
Not determined