ZMP
ctns
Ensembl ID:
ZFIN ID:
Description:
cystinosin [Source:RefSeq peptide;Acc:NP_001018407]
Human Orthologue:
CTNS
Human Description:
cystinosis, nephropathic [Source:HGNC Symbol;Acc:2518]
Mouse Orthologue:
Ctns
Mouse Description:
cystinosis, nephropathic Gene [Source:MGI Symbol;Acc:MGI:1932872]
Alleles
There are 4 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa14661 | Nonsense | Available for shipment | Available now |
| sa21844 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa14661
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000002459 | Nonsense | 236 | 384 | 8 | 10 |
Genomic Location (Zv9):
Chromosome 11 (position 6324593)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 11 | 6292776 |
| GRCz11 | 11 | 6290031 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCTTTATTAATACNNNNTTTTTTTGYTTGTTTTGTTTTCAGAGAGGTGGG[C/T]AAAAGGTYWCCAAAGTGGCCATTGGGTTATTAGCTATCGGCTGGACCTTT
Long Flanking Sequence:
ACGGAGTCATTCCTGTGGATGCCAATGATGTGTTCTTCAGTCTCCATGCATTACTTCTCACTCTGGTCTATATCTGCCAGTGTGCCATCTATGAGGTAAACATTACAACATTCATGGGCAAATGATCAATTATAATGATGTTATTGTGGTTGACACACTCGCTCACCTGTATATGTGGTTACAAAAACTCTTCATAAATATGATTATTATCATGTAAAAATGGCATATTCTGTCCCCTAAACCTATTTCTAAAATTCACAAAAATCACAGAAAACTTTCAAATATATATATTTTTTAAAGTACAGCGATTACTTAACAGGTTTTTGTCATAGCAGATTTAAGACCTCATGATGGCCCTGGGCAACTAGTGCACAAGTGCCCCCGTGTTTTTTGTAAATTAGCTGTCACGTCAGACCTATAATTTTGTGATGTATGTGAACACATGTAAGACCTTTATTAATACATTTTTTTTTTGTTTGTTTTGTTTTCAGAGAGGTGGG[C/T]AAAAGGTCTCCAAAGTGGCCATTGGGTTATTAGCTATCGGCTGGACCTTTGCATTTGTCTCTCTGTTTGTGGCTGTGGCAAAGAAAATCTCCTGGCTGGATTATCTGTACTATTTCTCCTACATTAAACTGGGTGTCACACTAGTGAAATACATCCCTCAGGTACAATTTTCCTTTCTCATCTCATCTCATCTCATAAAATATAACATACAATAAAATCTATTAAAAAAATTAAATTTTTTTTTTTTATTAAATTAGTTATTAGATAAAATTAGATAGACATAAAGAATTAATTAATTAAAATAAAATACAAAATTATATATATATATATATATATGCAGTTGAAGTCAGAATTATTAGCCCCCGTTTATTTTTTTCCCCCATTTTCTGTTTATAATAACTAGGACCACTTGGAATCCACACACACAGAATTTCTCAGATTTTCTGCAGATTTTTAGCCCATCATTAATTCAGTTTATTTACTTGAGTAAATGTGTGTAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21844
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:
G > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000002459 | Nonsense | 342 | 384 | 10 | 10 |
Genomic Location (Zv9):
Chromosome 11 (position 6327905)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 11 | 6296088 |
| GRCz11 | 11 | 6293343 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTTCTTGACAGATAAATGGAGGTTTATATTTGGAGACCCTACTAAGTTC[G/T]GACTGGGCGTCTTTTCCATATTCTTCGACATTTTGTTCATCATACAGCAT
Long Flanking Sequence:
CTGAAAAACAGATATTGTTTATATTTCTTTCAGGCTCACATGAACTACCGCAGGAAGAGCACAGAGGGCTGGAGCATCGGCAATGTGCTGCTGGACTTCACAGGGGGCAGTTTCAGTTTGATCCAGATGTTCCTTGAGGCCTATAACAATGGTGAGACCACACAAACACTGTCATGTTCTATTTACGGTAAGGGTGGTCATATATTCGCAAATTCTGACTTTCTCCTTAATTATATTTTTTCAGATAAGTAACATTGTTCAGTCACTAAATAGTGCCAATTTTGTCAAAATTACATGCAGTTTCAGATCAAATATTTAATGTGGTGGTAAATAATATAGAGGCCATTTAAATGAACGAATGTGCGAATATAAAACCAACTGTACCTCAATTATTTCCCACCGCAACACGTTAAAGATGTTACCATTCACAGAGCAACTGACTATTATGTGTTTTCTTGACAGATAAATGGAGGTTTATATTTGGAGACCCTACTAAGTTC[G/T]GACTGGGCGTCTTTTCCATATTCTTCGACATTTTGTTCATCATACAGCATTATTGTCTGTACAGGAACCGAGAGCCGATGTATCAGGATTTAGATGAACAAAATGATCAACACAGCAGTGTGAAAACCTGACCGGGGACATGGAATAACATGAAGATTTCATATGGACTTATTAATATCACTTTTTGATTACTATTTTTCAAGTGTGACCTGTTTATAAAAGGGAACTATATAATTGTATATAGGCTTTTAGTTTCATATATATATAACCTTATTTCATATTCAAATAAACAGTATGGTCTCAGGTGAATTATTAGAGCTGGTGCTGTACTGAAATTAAAGTGTTGAACGCAGCACTTCAAAATTAGCCATATCTTTGTGTTATATTCCCTATTCTTTCTTGTGTTTACACTGTCATCTGGTGGCAGTATGTGCTGTTACTAAATGGGTGATTTTATGGTCATTTATATACAATATAAAACATAACAAAATAGCTTTAGC
Associated Phenotype:
Not determined