ZMP
ophn1
Ensembl ID:
ZFIN ID:
Description:
oligophrenin 1 [Source:RefSeq peptide;Acc:NP_001002709]
Human Orthologue:
OPHN1
Human Description:
oligophrenin 1 [Source:HGNC Symbol;Acc:8148]
Mouse Orthologue:
Ophn1
Mouse Description:
oligophrenin 1 Gene [Source:MGI Symbol;Acc:MGI:2151070]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa11653 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa11653
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:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000044443 | Nonsense | 19 | 251 | 1 | 9 |
| ENSDART00000046157 | Nonsense | 19 | 266 | 1 | 8 |
| ENSDART00000051334 | Nonsense | 19 | 756 | 1 | 24 |
| ENSDART00000123562 | Nonsense | 19 | 800 | 1 | 25 |
The following transcripts of ENSDARG00000035420 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 5 (position 37361232)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 35143181 |
| GRCz11 | 5 | 35743334 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
KKCATCCTGCACTGGAGTTCAGCGACTGTTACTCCGACAGCCCCGATTTC[A/T]GAGAGAGATTGAAATGCTACGAAAACGAGCTGGAGAAAACCAACAAGTTC
Long Flanking Sequence:
GCCCCCGCGCGCCCCACACAGGAAGACTGCGGTTGTTTCACATACAGTTTTAGCGGCCAGTGACATTTACCGTCCAATGATGTGGGTGTACTCAGTATGTAGCCCTGCCCGCGTTCGTCAGTCCCTCCGCTCCCAAAACAAGGAAAAGTATAGAAACAAATAGTTTCTTTATCAGCGCTTTTAAGTTTTACTTTGCCACTCCATTTGCGCGACCGAATTAGTTTTAATAGGAAAAGCGCGCGCACCCGGACACCGTCACCACCGCAGCGCTGGATTATTGTTTTTTCCACAACTGCACATCACATAGTATGTCAAATATGGGGAACTTTATTGTAATCTGTTAACTGAAATTTTAATTAATACAGGCGAGCGATCATAGTGCAGGTGTGTCGTGGTTTTGTGTACTTTGCCGACAGCAGAAGAGTTATTCTTCACTGAGACTGAGAATGGTTCATCCTGCACTGGAGTTCAGCGACTGTTACTCCGACAGCCCCGATTTC[A/T]GAGAGAGATTGAAATGCTACGAAAACGAGCTGGAGAAAACCAACAAGTTCCTAAAGGATGTCATCAAGGACGGGAACAATGTGATCAACACGTTTAAAGGTAATCTCACAGCGACAATGATGATGAGGGTCTTCTTCGCAGGGGGAGGCGGATGGATGGATGGAGGTGTCCGCCTTTGCAAAAACCGATCAAATGACCGAATGAAAACGCAGGGACAGCCAATGCTTGTGTTTTGATCAAGTTTGTGTCTTTAGGCTTTCACTTGCAGGTCGCTGGTCGGTTTTAAGGGGGATTATGAATTGCGGAGGGGAGGGTGATCTGGCAGATGGTGCGCGGCTTTTGGAAGATCCCCCACTCGGGGCGGACTAGAGATGCTGGCAGGAGCTTTTAGGAGACGCTTGATTTATTTATAGCTGCCAGGCACCTTTATTTTTTCAGATTAGTAAACGGAATTGAACTGGAAAGTTTAGAGATGAGGTGTGAAAGTATCAACAAGATGA
Associated Phenotype:
Not determined