ZMP
si:ch211-160j14.3
Ensembl ID:
ZFIN ID:
Human Orthologue:
COL23A1
Human Description:
collagen, type XXIII, alpha 1 [Source:HGNC Symbol;Acc:22990]
Mouse Orthologue:
Col23a1
Mouse Description:
collagen, type XXIII, alpha 1 Gene [Source:MGI Symbol;Acc:MGI:2653243]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa18363 | Essential Splice Site | Available for shipment | Available now |
| sa43681 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa43680 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa18363
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 > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000123419 | Essential Splice Site | 72 | 285 | 4 | 17 |
| ENSDART00000147387 | None | None | 235 | None | 14 |
Genomic Location (Zv9):
Chromosome 21 (position 30865440)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 32064910 |
| GRCz11 | 21 | 32098168 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTGGATTCTCAGAAACTGATGATTTTGCTGTTCGTTTCAAAGCTCTGCAG[G/A]TACATTTTTCAACCAAAGATCTTCRACSGTGCACYTGAAGGCCCACTATT
Long Flanking Sequence:
ATTTAGGGTATGAATGGTGCAAATGGCATGCCTGGACCACAGGGCCCCTCAGGTTCAAAGGTTAGATTATTAGCCACTTAAACATTTTAGTTTTTTGATACAAACAAATACAACCATAATTTCATGCAGTTGTTGATTTGTTATACAGGGGGATCAGGGTGCTCCAGGTTTAGAGGGGAAGAGAGGGATTGATGGATCCCCTGGCATGAAGGTGAGCTGTTTTTCAAAAGCTGGCAATATGTTGCACGAAAATCCAGTTTATTACATGTAAATAGTAACATTATATAGTAATTCTGGTCCTATTTTATAGGGTGAAAAAGGAGATCCAGGACCCCAGGTCAGAATTTTTCAAAGTCTCTCACCCATTAAACATTTCTATTCCCTATGTTGCTTAACATTGTCATTTCTGTTTGTTTGTTCCTCAGGGTTTGCCTGGAGAAAAAGGAGCAACTGGATTCTCAGAAACTGATGATTTTGCTGTTCGTTTCAAAGCTCTGCAG[G/A]TACATTTTTCAACCAAAGATCTTCAACCGTGCACTTGAAGGCCCACTATTCAGCTTAGGTCCAGCCTTAATCAAACATACCTGAAACAGCAAATGAAGGTTCTTAGTGTGCTGAAGCAGATTAAATGTTGCAAGACAGAGGGTCCCTAATATCAGGGCTAAAGACCTCTGTTCTAAACAGAAATTTTAATATAAAGATAAGGAAGTTTAATGATTTCTAGTAATTACTTTTTGTATAAATATTTTCCTCATATCAATAGGGGCCCCCAGGTCCTCCTGGAGAGCAAGGGCCAAAAGTAAGTAATACATTTTCGCTGAATAACAATGCCATACAACAGTTAATATTGTTGAGACACGTTGAGTTGTGGATATATATCTAAATACGTTTTTTTTTTTTTTTTACAGGGAGAAATAGGGTTAAATGGAGCACCTGGACCTGAAGGAAAGCAGGTAGGTGATTACACAGTGTGTACTCATTCAGACACCTTTACTGCATAATGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa43681
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 > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000123419 | Essential Splice Site | 100 | 285 | 7 | 17 |
| ENSDART00000147387 | Essential Splice Site | 28 | 235 | 3 | 14 |
Genomic Location (Zv9):
Chromosome 21 (position 30864922)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 32064392 |
| GRCz11 | 21 | 32097650 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTACTCATTCAGACACCTTTACTGCATAATGTAATGTGTTATCTTATCT[A/T]GGGCCAAAAGGGAGAGAGAGGTGATGTTGGGGAGCCTGGAGCAGCAGGAA
Long Flanking Sequence:
GATCTTCAACCGTGCACTTGAAGGCCCACTATTCAGCTTAGGTCCAGCCTTAATCAAACATACCTGAAACAGCAAATGAAGGTTCTTAGTGTGCTGAAGCAGATTAAATGTTGCAAGACAGAGGGTCCCTAATATCAGGGCTAAAGACCTCTGTTCTAAACAGAAATTTTAATATAAAGATAAGGAAGTTTAATGATTTCTAGTAATTACTTTTTGTATAAATATTTTCCTCATATCAATAGGGGCCCCCAGGTCCTCCTGGAGAGCAAGGGCCAAAAGTAAGTAATACATTTTCGCTGAATAACAATGCCATACAACAGTTAATATTGTTGAGACACGTTGAGTTGTGGATATATATCTAAATACGTTTTTTTTTTTTTTTTACAGGGAGAAATAGGGTTAAATGGAGCACCTGGACCTGAAGGAAAGCAGGTAGGTGATTACACAGTGTGTACTCATTCAGACACCTTTACTGCATAATGTAATGTGTTATCTTATCT[A/T]GGGCCAAAAGGGAGAGAGAGGTGATGTTGGGGAGCCTGGAGCAGCAGGAACAAAAGGGGAACTTGGGCTGACAGGGCCTCCAGTGAGTATTAACAATATATAGCAGCTGATGTTTACTGCAGCTATATGGGTTTTACATTATTTTTCATGGAATTATAGGGGGCAGCAGGTCAAAAGGGAGAAAAAGGAGACTCTAGGCTCGAGGATAATCTAGTAAGTTTAAAACAAACCGTTCTTATCAAAATTTGAGAATTTTTTTTACATACAAATGTTACCAGCATGGATCTTGATAACTGTCTTATAGGCCCAGATTATCTCCTTGCCTGGCCCTCCAGGGCCTCCCGGACCCCCTGGGCCTGCTGTAAGGAAAATTGTTTAATACTTCTTGACTTTAAAAAGGATAAAGATATTCAGAAGTTGCTTTTAAGCAATATAAAATAATAATACAAAACCTTCTTCCAAATATTCCAGGGATATCATGGACTGCCTGGATCCAAGGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa43680
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000123419 | Essential Splice Site | 172 | 285 | 10 | 17 |
| ENSDART00000147387 | Essential Splice Site | 100 | 235 | 6 | 14 |
Genomic Location (Zv9):
Chromosome 21 (position 30864423)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 32063893 |
| GRCz11 | 21 | 32097151 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAACCTTCTTCCAAATATTCCAGGGATATCATGGACTGCCTGGATCCAAG[G/A]TGGGTTCTGTGGGTGAAACTGTGAAACGCTTTTGTAAAGAAAAAATGTTT
Long Flanking Sequence:
TAGGGCCAAAAGGGAGAGAGAGGTGATGTTGGGGAGCCTGGAGCAGCAGGAACAAAAGGGGAACTTGGGCTGACAGGGCCTCCAGTGAGTATTAACAATATATAGCAGCTGATGTTTACTGCAGCTATATGGGTTTTACATTATTTTTCATGGAATTATAGGGGGCAGCAGGTCAAAAGGGAGAAAAAGGAGACTCTAGGCTCGAGGATAATCTAGTAAGTTTAAAACAAACCGTTCTTATCAAAATTTGAGAATTTTTTTTACATACAAATGTTACCAGCATGGATCTTGATAACTGTCTTATAGGCCCAGATTATCTCCTTGCCTGGCCCTCCAGGGCCTCCCGGACCCCCTGGGCCTGCTGTAAGGAAAATTGTTTAATACTTCTTGACTTTAAAAAGGATAAAGATATTCAGAAGTTGCTTTTAAGCAATATAAAATAATAATACAAAACCTTCTTCCAAATATTCCAGGGATATCATGGACTGCCTGGATCCAAG[G/A]TGGGTTCTGTGGGTGAAACTGTGAAACGCTTTTGTAAAGAAAAAATGTTTTGATTAAATGTTTAAAATAAAATTGTGTTGTAACAGGGAGAACCTGGTGAAGCAGTAAAAGGAGAAAAGGGGGATGCTGGAGAGAGAGGTCCACCTGGACAGAGGGTAAGTTTTGCTGCAAAATGATAAGCAGAAACCTATTAAAAAATCTGGAGCACTAAAATTCTGCTTGTTGCGCATAGGGTCTTCAAGGCTTTCCAGGATCTAATGGATTGGTAGGCCTGCCAGGTGCAAAAGGTGAAAAGGTCAGTGTTTTGTGTACCAGAGTTAAAGAAAATAGTAACACATGGCATGTTCTGATATCTGACTTTTTTTCTCATTGTGGTTTGAATTCTAGGGAAAACAAGGTGAACCAGGATTAGATGTAAGTGATCAATGTGTTGTGAGTTATTTAAGTTTATAAAGTAATTTCTTACTTAACATGGCTGTCCTGTGACAGGGTTTCCCAGG
Associated Phenotype:
Not determined