ZMP
si:ch211-237l4.5
Ensembl ID:
ZFIN ID:
Description:
procollagen C-endopeptidase enhancer [Source:RefSeq peptide;Acc:NP_001025352]
Human Orthologue:
PCOLCE
Human Description:
procollagen C-endopeptidase enhancer [Source:HGNC Symbol;Acc:8738]
Mouse Orthologue:
Pcolce
Mouse Description:
procollagen C-endopeptidase enhancer protein Gene [Source:MGI Symbol;Acc:MGI:105099]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa9403 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa21725 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa9403
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000079469 | Essential Splice Site | 74 | 448 | 2 | 10 |
| ENSDART00000122543 | Essential Splice Site | 74 | 487 | 2 | 9 |
Genomic Location (Zv9):
Chromosome 10 (position 22997117)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 10 | 22827455 |
| GRCz11 | 10 | 22796907 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATTYCCATCGTTTTACAAACCCAACAGCAAATGTACYTGGTACATCACGG[T/C]GAGTTYACTCTGATTTCACACTCAAGATTCACCAGATTACTTGAGATWGA
Long Flanking Sequence:
ATGTACAATACATAATGTATATACTGTGCTTTGCTATTAAAATCCTGAAATACATGAAAATCCATGGACCTTTATTAGCTTTTAAAATTATTTTGTATAAATATCTGCCGTCTATTTAACTGTATTTTGACTGAAATCTCATGACAGATAGCAAAAGCAATTATTACAATTAATGTATGTAGTGCTTATGAATCTTTAGTATTTATGTATCTTTAATAGCAGTAATTCAGTTGTTGTTGGTCCATCTGTGTGCATCTGTTTGTACTTTGTGAGATTGTGTTTTGCAAACTATGTCTTGACTCATGTGTTTATTGTGCAATATAAACACATTCATATGAGCCATTCTCTTATAGTGAAATCTCTCTTTTTCACCATTCCTCGCTTTCTCAGGCCCGTGTTTAACTGTGGAGGGGATCTGGTTGGAGACTCAGGCTTTGTGGGAAGTGAAGGATTCCCATCGTTTTACAAACCCAACAGCAAATGTACTTGGTACATCACGG[T/C]GAGTTTACTCTGATTTCACACTCAAGATTCACCAGATTACTTGAGATAGAAGGGAATTCTATAATTGCAGATACAATCAGCATTTCAGAAATTATATTAAATAATCAATGCTTGCCAAACACAAGTCACTTCCTTTTTATCATTTAAAGGTCCCGTGAAATTAAAATAAAATGTTTAAGATGTTAGTGTATTGTTCGTTGTTAGGATAATTAAGCTAGTGTGCACCAAAACATTGATAAAAACCGTGTTTAGAAGACATTAAACCGATATAAACATCTCAAGCTTTTTGTCACAATGCCTAAATGTATCAACGGTTTTATTCATGTCAGTTTCTCATGAAATCATGACCAATCAAATGCTCTCTAGTATCTGACATGCCCCGCCCCCTTCAAGACGCTTCACATTTGATGTCCTTGAGCTCAACCACTACAACTGAAAAAAAAACATTAAACGCTATTGGCTGTTTTTTAAAAGGGGGAGGGGCTACACTGTCTCTTCAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21725
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000079469 | Essential Splice Site | 349 | 448 | 8 | 10 |
| ENSDART00000122543 | Essential Splice Site | 388 | 487 | 7 | 9 |
Genomic Location (Zv9):
Chromosome 10 (position 22991796)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 10 | 22822134 |
| GRCz11 | 10 | 22791586 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTAAAAGAGATGGAACTATCAAGACAAGCTTCTGTGCAAGTGAATTTGG[T/C]AAGCAACCATTTGGTACTATTAGAAGCATTAAGAAATATGTATATCACAA
Long Flanking Sequence:
AATTTGCAGGAACATTGTTACGAATAGCAACGTGCTGTTAGTGCAGTTCGTATCTGACCTGAGCGTGACTTCGGACGGATTCATGGCGTCATACACCAGCATCCCGCGTGGTCTCCATTCTCCGTCTGCAGGTGGCGATGTTGTGTCAGGACCAAGAGTGTCTTCAACACCCACAAAACCTAAAATCATCCCAGCAAAACCTGTCGTAACAACAGAAGCGATAACTACAACTACAACCACTACTACAGAGGCACCGGAACAGCCAAAGCCCCGACCTAAACCAGTTAGACCCATTAAACCTGTGAAGCCTCCAGTCCGTAAACCAGAGCCTGAAAGACCCAGACCTGGTAAGGAAAAGATGAGAGTAGCACATGATTCTGGTTATGGTTGATTGTAAATTGTTTAACCTCTTTTTTAGCCACCGAAACAAACCCACTGTGTGCAAAGGCATGTAAAAGAGATGGAACTATCAAGACAAGCTTCTGTGCAAGTGAATTTGG[T/C]AAGCAACCATTTGGTACTATTAGAAGCATTAAGAAATATGTATATCACAAAATCTGCTAAAAGCTTGATTCCTATTGATTGATGAATATCTAAGGTATGCAGTTATGCAACTTTTTTAAATTCACTGTAAACTACGGCTTCTTGGTTCCTATTGCTTTAATAGTATGTCCATTGTAAACAATTATATGATCTGTAAGTCATGACAAGATACCTGTATACACTCAAAGAATGATTTTTGCTGCTTCTTCAAACTACTTATTTAAAATGAGCTGAATCAACACAGTTCTTGAGTTTTTTGTGACAACTTAATTGTTTTATATTCAATCCACTTAAACTTATAAAAACAATTAAGTTCACTTAATTCATTTGTGTTGGAGGGTGTGGAACCCAGCATTTTTAACAGTTGATTTTTATGTCATATGTTTATTATTACTTATTAAACCATATTTCATAATTTTATTTTAACAGTTTATTGTAATTCACAATAAAATGATTGATAA
Associated Phenotype:
Not determined