ZMP
col18a1
Ensembl ID:
ZFIN ID:
Description:
Collagen type XVIII alpha 1 [Source:UniProtKB/TrEMBL;Acc:B0S8G3]
Human Orthologue:
COL18A1
Human Description:
collagen, type XVIII, alpha 1 [Source:HGNC Symbol;Acc:2195]
Mouse Orthologue:
Col18a1
Mouse Description:
collagen, type XVIII, alpha 1 Gene [Source:MGI Symbol;Acc:MGI:88451]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa34722 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa34722
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000007058 | Essential Splice Site | 842 | 1383 | 27 | 41 |
ENSDART00000053118 | Essential Splice Site | 843 | 1385 | 27 | 42 |
ENSDART00000097295 | Essential Splice Site | 808 | 1349 | 28 | 42 |
ENSDART00000130434 | Essential Splice Site | 1104 | 1645 | 27 | 41 |
Genomic Location (Zv9):
Chromosome 9 (position 43042116)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 9 | 42167286 |
GRCz11 | 9 | 41969073 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGCAGGACCTCCTGGTGCAAAAGGTGAATTCGGAATGCCAGGCAGACCTG[T/A]AAGTCTTTCACAAAACAACTTTCATTAACCTACAACTATTGTATGGCATC
Long Flanking Sequence:
GCTTAACATGAGATGTTATAAACCTCTGCTCTGAAAAAAACAAACAAACTTGTTTACAGGGGGAGAAAGGAGAACCTGGACTTATTCTTGGACCTGATGGAAATCCACTTTACCTTGGTGGATTGACAGGACAGAAGGTTGGTTTATTCATTCAAAAGACTTGTTTTTGGTCTCTAAATAATACAGATTAGTCCTTTTTTGTCTCTATTGTTGTCATAACTTCACTAGCAATAATAAGTAGGTAAATATTATATCAATGTACTTTTTTATTTAGCTAAATTTGATGTTCTTTTTATTTTACTTTCTGTAGGGTGAGAGAGGTATTTCTGGACCAGTCGGACCTCCTGTATGTTTCTATTTTTATTTATTTTTATTATTCAGATTTAAATAAAGAACTATTTTAGATGCATCCGCTAACATCTAAGTTTGATCTCATTTTTTTCAGGGTCCAGCAGGACCTCCTGGTGCAAAAGGTGAATTCGGAATGCCAGGCAGACCTG[T/A]AAGTCTTTCACAAAACAACTTTCATTAACCTACAACTATTGTATGGCATCATATTTAAGTGAGTATGTAATTCGATTTTACTTAACAACCTGATTTTATGACTGTAGGGTCGTCCAGGTGTGAACGGATATAAAGGAGAGAAGGGAGAGCCAAGTTCAGGCTCTGGATATGGTTACCCGGTAAGTCCACCACCTCCTCTTGAATATGAAAATTAATGCAGTTCGTTCAATCAGTGCTTGTTATATAGATGGCTTGCCCTCATATGTTATCTTGTGGCTTTTCAAGGGTCCCCCTGGTCCCCCAGGACCCCCTGGTCCCCCCGGACCCGCTGTGCCCTTGGACAGATTTGGCGTAAGTGATTTTTGTGTCATATAAGCTGTAATTCATGCATGAAATGCTGGAAAATGAGCTCAATATGCTGGCTGTGTTAAACTGAAGTGATCATGATTGCACCAGCAATAATTTGCAACCTCATTTTTTTCCCATTTCAGAGATATGAA
Associated Phenotype:
Not determined