ZMP
NP_001177685.1
Ensembl ID:
Description:
collagen type V alpha-3a [Source:RefSeq peptide;Acc:NP_001177685]
Human Orthologue:
COL5A3
Human Description:
collagen, type V, alpha 3 [Source:HGNC Symbol;Acc:14864]
Mouse Orthologue:
Col5a3
Mouse Description:
collagen, type V, alpha 3 Gene [Source:MGI Symbol;Acc:MGI:1858212]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa20148 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa20148
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 > G
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000022993 | Essential Splice Site | 718 | 1535 | 35 | 62 |
Genomic Location (Zv9):
Chromosome 3 (position 54746608)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 53640513 |
| GRCz11 | 3 | 53895176 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGAGAGAGTTGTGGAAACAGAGATCCATCTTTCTGTGTTCTCTGGTCTCC[A/G]GGGAGATCCAGGCCCCGCAGGGCAGCCCGGGAAGAGTGGTCCTGCTGGGC
Long Flanking Sequence:
ACTGGTCCCCCTGGGCCCGCAGGAGTGGTTGGACCACAGGTGGGTCAATCATACAGGCTTGGACGAACATTGCCTTTCTGGTTGCATGGTCTTCATTCACTCCTATGAAGCTATGTAACATTTTTGAGCTGGTTTAATAAAGCTCTCTAAATGATCTCTTATTCCAGGGCAAAACTGGGGAGACTGGACCCACCGGTGACAGGGGCCACCCAGGTGCCCCAGGACCTCCTGGAGAGCAAGGTCTGCCAGGAGCTGCAGGCAAAGAAGGGACCAAGGTTAGATATCAGCATTAAAATCATCATCATCATCATCATGAAACACACCAAACACATTCATCTAGTTATAACTTACATTGCTGATTACAAGCCATATGTTTCTGCTCATTCAATATGAATAGAGCTCCCAGCATGGCCCAGCGCCTATAAAGAGTGATGGATGACTGTTAATGAGTGAGAGAGTTGTGGAAACAGAGATCCATCTTTCTGTGTTCTCTGGTCTCC[A/G]GGGAGATCCAGGCCCCGCAGGGCAGCCCGGGAAGAGTGGTCCTGCTGGGCGACGTGGATTCAGAGGAGAAAGAGGCTTACCTGGCATTCTGGTAACACACCTCAAAGCATCTGAGAGAATATCTTCTTATAATCTCCGCTGTGATGGATGCTGCCTTTACATAACCGTTAACTGTTCCAATATGAAAGCTGACTTTGTGCAAAAAAGGCAGATTGTGGTTGTATGATTTTTTAGCATGGATCCTTATATTTTTTTTCTTATTTTTGTGCATTAATAGGGCTCTTCTGGTCTGAAGGGTGGAGAGGGCCCCCTTGGTGTTGCAGGGCCAATTGTAAATGATTTTTCTATTGTCTTACACATTTTCCTGTTTGTATGGTTTAAAATATAGTTCACTTTACTAAAATGTTCTGCACAGGGTGCCACCGGAGAGAGGGGATCCTCTGGACCTGCTGGTGCCATTGGCCAGCCTGGTCGTCAGGGGGGTGTCGGCCCTGCTGGGC
Associated Phenotype:
Not determined