ZMP
si:ch211-196i2.2
Ensembl ID:
ZFIN ID:
Human Orthologue:
COL16A1
Human Description:
collagen, type XVI, alpha 1 [Source:HGNC Symbol;Acc:2193]
Mouse Orthologue:
Col16a1
Mouse Description:
collagen, type XVI, alpha 1 Gene [Source:MGI Symbol;Acc:MGI:1095396]
Alleles
There are 4 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa37257 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa39323 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa37257
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 > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000051456 | Essential Splice Site | 5 | 898 | 1 | 40 |
| ENSDART00000147660 | None | None | 240 | None | 12 |
Genomic Location (Zv9):
Chromosome 21 (position 12475699)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 14176873 |
| GRCz11 | 21 | 14273602 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCAGGGGCGAACAGGGCAGAGGGGTCACACTGGCATGCCTGGACCTCCT[G/T]TAAGTGTCCAAACACAGATCCTGAGAGTATTGTCAGTCTTTTGTTTTGAA
Long Flanking Sequence:
GTAACCTGCACTAACAGAGCAATTGCACCAGAGTTTGTTTACTACCATCTGTGAACATACTTAAGACATATTTTATTAAGAGTTTAATTTATTAAGAGTTATAGCACTATTTTTTCACATACAGGGAGAGGATGGAGAGGCTGGTCCACATGGTAAAGTGGGCAAAGAGGGGTCAACGGTGAGAGTGAATCTGTACTGCAGGAAATATGTTTCAAATGTAAGTGTTTTATTCTGCCCACTAATCAGAAATATCCATCTTGATTTTACTGAAGGGGAGCAGAGGTCCTGAAGGCCTCTCTGGAAAGCCTGGTCCTAGAGGCCTAAAGGTAACACACTTTATAGTAGAATGTTATATTTTATTGTTATACACTATACCTTCAGCTATTACAAATGGAAATGGTCATCTAGTTGGAATCTGTAATAATGTTTTTAATAGTTTCGAAACATATTTTCAGGGGCGAACAGGGCAGAGGGGTCACACTGGCATGCCTGGACCTCCT[G/T]TAAGTGTCCAAACACAGATCCTGAGAGTATTGTCAGTCTTTTGTTTTGAATGTTGATGATGTCAGTGTTGATGGTGTTTATTGCAGGGTTTACCTGGCCCACCTGGACCATTCGGAGCTGAAGGAAAGCCTGGTACACAGGTTCCCATTCTATATTCTAATACCATGATAACTGTAAAAGTATTTAAACTGTAAAAAGACTGTAAGAAATATGATGCCCTTCTACATTTACTAATAAGTATATTTATTCATTTAAAATGATAGCCCAATCAAATTAAAATTCTGCCATCATTTTCTCATGTTTCAATTGTTCCAAATTTCTATTTGAGTTTCTTTCTTTTGTTGAACACACACACAAAAAAATTTAAATTTGTTGGCAACCAGTAACCACTGACTTCTATAGTAGGAAAAATACATAACCAATAAATTCAAAACACCTTTTTGTAGGGCTGCACAATGTAGCATCGATATCGCTATTTGATCATTCGGAATAATAACATT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa39323
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 |
|---|---|---|---|---|---|
| ENSDART00000051456 | Essential Splice Site | 392 | 898 | 20 | 40 |
| ENSDART00000147660 | None | None | 240 | None | 12 |
Genomic Location (Zv9):
Chromosome 21 (position 12467683)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 14168857 |
| GRCz11 | 21 | 14265586 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGACCGGGCCAAGTGGTTCACCTGGTGAGCCAGGAAATCCTGGACCTGAG[G/A]TTTTTGTTCACTCATATAAATGCATATTCTGCAAATGTGCATAAAATGGA
Long Flanking Sequence:
ACTGGTTTAGAGGGTCCATGGGGAGACACAGGGGAGCAGGGAGAGAAGGGGATCAAGGGAGCCAAGGGACAAATCGGAATGCAGGTGTGTGCAAAAATGGGCAGTAGCATAGTCAAAATATGTTGATTTTGTAACTCTTTTTATTTTTATGTCAGGGTGAGCCAGGCCTAGTTGGTGGGGTTGGACATCCTGGCCTTAAAGGTGCAGAAGTGAGTGTTGATCTGAGAATGACTGACCCCTGTATTTTTTATTTATATGGTTCTAGAGTTGAACTTAGTGAGGAACAATTCCTTTTTATCATTTGCTTCAGGGTGTACCTGGCCATCCAGGACTGGTTGGGCCAGATGGACCTGCAGGAAGCAAGGTAGCATTGTTGATTGCTTATATTTTGCATTGCATATTTTGAAATTTCTTTTAATGGTTAAAAACAAAACTTACCTTTTTAGGGAAAGACCGGGCCAAGTGGTTCACCTGGTGAGCCAGGAAATCCTGGACCTGAG[G/A]TTTTTGTTCACTCATATAAATGCATATTCTGCAAATGTGCATAAAATGGAATATCTTTAATACATGAGATTTTAAAGTTACTTGCTGTTAGAAATTAACTAGTTTTTGTTATTCTCTCTTTATTAATATCTGTGGTTTGTGTCTCAGGGAATTGCTGGTCCCAAAGGTGTGCGAGGTGACACAGGAAAAGGCGGGACACAGGTGAATATAATTTGGTAGTTTCTATATTTCTTTCACGATAATATGTACTTTGTATCTGAATGATGGAAACAATGAATGCATTTGATCCTACAATACTAGTTGATTGGTTTTCATATCTCGGCGTACAGGGTGGTGTGGGTCTAGTTGGTCCCATAGGTCCTTTGGGCCCCAAAGGTCTTTCAGGGCCTGAAGGCGAGAAAGGAGAGCCAGGAGATAAAGGAGAACCAGGGTTAGAGGTGAGCTACACTCAACTAAACTCCGGTAACAGTATGACGACCAATCTTCACTTTTGATTTGTA
Associated Phenotype:
Not determined