ZMP
matn3a
Ensembl ID:
Description:
matrilin 3a [Source:RefSeq peptide;Acc:NP_001004007]
Human Orthologue:
MATN3
Human Description:
matrilin 3 [Source:HGNC Symbol;Acc:6909]
Mouse Orthologue:
Matn3
Mouse Description:
matrilin 3 Gene [Source:MGI Symbol;Acc:MGI:1328350]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa45716 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa45716
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 |
|---|---|---|---|---|---|
| ENSDART00000074631 | None | 319 | 337 | 4 | 7 |
| ENSDART00000100608 | None | None | 253 | None | 6 |
| ENSDART00000100609 | Essential Splice Site | 277 | 295 | 3 | 4 |
| ENSDART00000100610 | Essential Splice Site | 442 | 460 | 6 | 7 |
Genomic Location (Zv9):
Chromosome 20 (position 43793124)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 20 | 43864283 |
| GRCz11 | 20 | 43761361 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGGCTTTCCAGAGGCAAACACAAACCTCCATTCAGGACCTCAACGCCAA[G/A]CATATCCTTTTTGCCAAGTCCAAGAGTGCAACTACATTTCCCAGAATGCA
Long Flanking Sequence:
AATAAAAATTAAAAACATTTATTAGTCTGACCAATCCTCATTTTCAAAAAAAAAAACAAAAAAAAAAAAGCTCTAAATGACCAAATATTTAGATATTTGTTACATTTGGGAAAATATTTGGTTAAATAAATCTGGATCACTATAAAAAAGCCTCATCTGTCAGTGTCTGTAATTTCCCACATGTTGAGTTGGTTGATTCAACATTGATGTGAACTCATAATATGTAACACTCACAATGTTGTTCAAAAGTTTATGAACAACATTGCATAAACTGTTACATAAGAACTTTATGTAATAACTTTTACTTTGGGGTAAGGGGGGGTAGATCTTTTTTTCTGTGCATGATTCAAATCGCCCTTTGCGAGGTTTTCTGTGATATTTGTTGTTTGACTGTGATGTGAAGAGGTGAAGGTGGAGATTGTTCAGGATCCCTGCATGTGTGAAGCCCGACTGGCTTTCCAGAGGCAAACACAAACCTCCATTCAGGACCTCAACGCCAA[G/A]CATATCCTTTTTGCCAAGTCCAAGAGTGCAACTACATTTCCCAGAATGCAATGCAAACTGTAACTCTTACAGAAATAATGCACTAAATCATTGCCCGTTTTAACCTTAACGATCGTTATACTTGCTGCTGTCACAAGAAAGATTGAGCAAATGGAAAACATGCTGGGACGCATGTAATGGAGAAATGAATGGTGCGTATTAATTCTCTAACGTGTTTTTAATAGATGTATATTTTAAAACACAAACCTTCAACACTTACTTCTGCTCAGCAGGGTCAGCATGATCTGTGAACTTCAGCCAACATACATCTGCCATCTCATCAATCAGTTTGTGCCTTCAAAACACCTAAAGAAAAGTTACATATGTTCACAGATCAGTGACAAGCCCAATAAATTATATCAAGCTTAAATAATTCATAAAGAATTGATTGTGCATGTGCAATGATGTGATTTTGCTCAGTAAGAATAATCTTTTCATTTAAGAGTGTTATGCATCTGTCT
Associated Phenotype:
Not determined