ZMP
LOC100331956
Ensembl ID:
Human Orthologue:
COL21A1
Human Description:
collagen, type XXI, alpha 1 [Source:HGNC Symbol;Acc:17025]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa30321 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa30321
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 |
|---|---|---|---|---|---|
| ENSDART00000130646 | Essential Splice Site | 68 | 223 | 2 | 5 |
Genomic Location (Zv9):
Chromosome Zv9_scaffold3454 (position 13824)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 13 | 1728530 |
| GRCz11 | 13 | 1859821 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGAAATGTCTGAGCAGCACATCCAGCAGATCTGCAGAGACATCCTCCGAT[G/A]TGAGTACACATAAGTATCTCCAATATTTTTCATTATCATAATTTTTTTGT
Long Flanking Sequence:
TAATGCTTTAATTCTATTTAAATGAACAGCATCTAAAACAAATGCTGTTCAATGTCCTCCGTCATTTTAGCTGAATTGGTCTCATGACTAAAAATGTGTTCTGGTTTTTGAAACACTCCATTTCCACTCCATTATAAAACTAAAACTGGCAATCTATTGTGATGATGGTCTGTATTTTATGTGGCCAAGTGTGAAATATGTACGTTGGGAAAATATTTCTTGTGAGGTTTTTGTATTTAGCCCACTACTGTTGACTTGTGGATTATAATTGATTAAATATTTTGTTTTCAACATTGTAGGCTATTTGCCATCCCTTCCTTTTTGCCCTTGGCTAATCACATGCCTAGTAATGTATTTATAACCTATGGAAATGTTAGAAAAGCATGCTATTGTCAGCTGGACACTTGGACAGAAAGACCTGTTGTAGTGACTGTGTGTTTTTCAGGGCAGAGAAATGTCTGAGCAGCACATCCAGCAGATCTGCAGAGACATCCTCCGAT[G/A]TGAGTACACATAAGTATCTCCAATATTTTTCATTATCATAATTTTTTTGTTCTGTATTTTTTTTTTTCTGTTTTGAACTTGCCTCTGAACAGCACCCTCTAGTGGACTCATATGAAACGTACAAAACCATTTCCTGAGTAATGGATTTCCAAGAATGCAGACAGCGCCCTCTAGTGGATTAGCCATCTGAAACGTACAACAAAATGTACCGCAATTAATATATTTAAGATTCACAAAAAATGTAGACAGTAGATTTACGAAATTCTCACATTATGTCTCTCTAAGGTGTTAAGCGTGGCTAACTTACTTAACCACGCCCCTCCAGTTTTGACATCACAACAGAAATGGTGAGGAGGAGGAGTCAGCTGGGCTAAAATAATCGTCCCCAAACCCCTTTCTCTATCTTCCTGAATAAAATGCCTACTTTACTACATCCAATCATCTCACAGTGGAAAAAAACAAGCCACGCCCACTGTTTTGTTATTTAATATTCCATTTTT
Associated Phenotype:
Not determined