ZMP
col17a1a
Ensembl ID:
ZFIN ID:
Description:
collagen, type XVII, alpha 1a [Source:RefSeq peptide;Acc:NP_001139037]
Human Orthologue:
COL17A1
Human Description:
collagen, type XVII, alpha 1 [Source:HGNC Symbol;Acc:2194]
Mouse Orthologue:
Col17a1
Mouse Description:
collagen, type XVII, alpha 1 Gene [Source:MGI Symbol;Acc:MGI:88450]
Alleles
There are 10 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa19578 | Essential Splice Site | Available for shipment | Available now |
| sa16045 | Essential Splice Site | Available for shipment | Available now |
| sa19579 | Nonsense | Available for shipment | Available now |
| sa19580 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa19578
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000101004 | None | None | 1191 | None | 45 |
| ENSDART00000142957 | Essential Splice Site | 403 | 1408 | 12 | 52 |
Genomic Location (Zv9):
Chromosome 1 (position 50090488)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 48939669 |
| GRCz11 | 1 | 49584089 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTCTACATCTGGCGGTGCTATGATGGCTAATGGAAGGTGCACTGGCTATG[G/A]TAAACTCAATCTTATCTCACTTCAATACTGTGCTTATTTTAAATGTTAAA
Long Flanking Sequence:
AAATAATTTTGACATTTTTATGTTACCTTTGCAGAAAAACTGAATTGTTAAATATAAACTAAGAATTTCATGAAAAAAGTCGAACAATTAATAGCTTTGTTGCTAATTTGCCATCACATGCGCTTTAATCGTTACACGTATATTGCTATTGTATCTAATTATAACCATGAGATTAAAATGTACAATTTATTTTAATTTTATTTTAACGTATCTACTTTTTTTTTCATTTTTTATTTCCATGCCGAAAATGTGCTTCAGTTAACACAATGCACGTGTTTTTTTTTGTTTCAGGCGGCATGCAAAACAATCTGACCCTCAGTTCATCTGCCCTTGATACTACAGGTTATTACATTGAGCAGTTCACACAACAACACACTAAAATACATGAAATATTTTACAATTTCCAACAACATCTGTGTTCTTCTCAGTGTATGGGATGCAGAATAACCTGTCTACATCTGGCGGTGCTATGATGGCTAATGGAAGGTGCACTGGCTATG[G/A]TAAACTCAATCTTATCTCACTTCAATACTGTGCTTATTTTAAATGTTAAAACACATTTTTTAAATGTTAATACAAGACACTAAAGAATACTAATGGGGCAGCAAGGTGGCAGTGGTTAGTACTGTTGCCTCACAGCAAGAAAGTCACTGGTTTGACTCTCAGCTGGGCTAGTTAGCATTTCTATGTGGAGTTTGCATGTTCTCAATGTGTTTGTGTGGGTTTCCTTCCAGGTGCTCCGGTTTCCCCCATAGTCCAAAGACATGTGCTATAGGTGAACTGAACAAACTAAATTGGCCGTAGTGTTTGAGTGCATGTGTGGATATGAGAGTGTATGGGTGTTTTTTAGCATCCGCTGTGTAAAACATATACCGAAATAGTTGACGGTTCATTCCGCTGTGGCAACCCCTGATAAATAAGAGACTAAGCTGAAGCAAAACGAACTAATTAATGAATGAATGATATTTTAAGAATTTATTATGGCTAATTTCAGTGTATGGGGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16045
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:
T > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000101004 | None | None | 1191 | None | 45 |
| ENSDART00000142957 | Essential Splice Site | 404 | 1408 | 12 | 52 |
Genomic Location (Zv9):
Chromosome 1 (position 50090489)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 48939670 |
| GRCz11 | 1 | 49584090 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCYACATCTGGCGGTGCTATGATGGCTAATGGAAGGTGCACTGGCTATGG[T/A]AAACTCARTCTTATCTCACTTCAATACTNNNNGTGCTTATTTTAAATGTTAAAA
Long Flanking Sequence:
AATAATTTTGACATTTTTATGTTACCTTTGCAGAAAAACTGAATTGTTAAATATAAACTAAGAATTTCATGAAAAAAGTCGAACAATTAATAGCTTTGTTGCTAATTTGCCATCACATGCGCTTTAATCGTTACACGTATATTGCTATTGTATCTAATTATAACCATGAGATTAAAATGTACAATTTATTTTAATTTTATTTTAACGTATCTACTTTTTTTTTCATTTTTTATTTCCATGCCGAAAATGTGCTTCAGTTAACACAATGCACGTGTTTTTTTTTGTTTCAGGCGGCATGCAAAACAATCTGACCCTCAGTTCATCTGCCCTTGATACTACAGGTTATTACATTGAGCAGTTCACACAACAACACACTAAAATACATGAAATATTTTACAATTTCCAACAACATCTGTGTTCTTCTCAGTGTATGGGATGCAGAATAACCTGTCTACATCTGGCGGTGCTATGATGGCTAATGGAAGGTGCACTGGCTATGG[T/A]AAACTCAATCTTATCTCACTTCAATACTGTGCTTATTTTAAATGTTAAAACACATTTTTTAAATGTTAATACAAGACACTAAAGAATACTAATGGGGCAGCAAGGTGGCAGTGGTTAGTACTGTTGCCTCACAGCAAGAAAGTCACTGGTTTGACTCTCAGCTGGGCTAGTTAGCATTTCTATGTGGAGTTTGCATGTTCTCAATGTGTTTGTGTGGGTTTCCTTCCAGGTGCTCCGGTTTCCCCCATAGTCCAAAGACATGTGCTATAGGTGAACTGAACAAACTAAATTGGCCGTAGTGTTTGAGTGCATGTGTGGATATGAGAGTGTATGGGTGTTTTTTAGCATCCGCTGTGTAAAACATATACCGAAATAGTTGACGGTTCATTCCGCTGTGGCAACCCCTGATAAATAAGAGACTAAGCTGAAGCAAAACGAACTAATTAATGAATGAATGATATTTTAAGAATTTATTATGGCTAATTTCAGTGTATGGGGTC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa19579
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000101004 | Nonsense | 477 | 1191 | 14 | 45 |
| ENSDART00000142957 | Nonsense | 582 | 1408 | 18 | 52 |
Genomic Location (Zv9):
Chromosome 1 (position 50093947)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 48943128 |
| GRCz11 | 1 | 49587548 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGAGGCTGAAGGCTCGTGTGGATGCTATCGATGGTGGAGGAACCTCTCCT[C/T]GAACCAGCGGTTTGAAAACTGACGACATTCCTGGGGTCCAATCTGGTAAC
Long Flanking Sequence:
CCTCAGGTGAGTTAAGATGAATTTAGTTTCTTTATTCAGTTGAACACGAAAGAAGATACTTTGAAGAAAGCTGAGAACCTGTAGCCATTGACTTGAAATGTAGGAAAAATAATATGGAAGACTACTATGGTTTCAATTTCCAGCTTTCTTCAGCTATTTCTCCAGCTTTTCTTCAACTCTATAGTGCATTACTGTGTGTGTAAAAATGAGCGTGTATGGGTGTTTTCCAGTACTGGGTTTCAGGTGGAAGAGCATTTGCTGTGTAAAACAAATGCTGGAATAGTTGGCGGTTCATTACACTGTGGTGACCTCTGAAATAGAGACTAAGCAGAAGGAAAATGAATACAAATTAGCTGCTAAATGAAAATGTTTGTGACATTGCGTTGGATTTACAGTGGCTTGTATTTTGACAGTTTCCTGTATAATTTCTTTATCTAGGTGAGCAGCTGAGGAGGCTGAAGGCTCGTGTGGATGCTATCGATGGTGGAGGAACCTCTCCT[C/T]GAACCAGCGGTTTGAAAACTGACGACATTCCTGGGGTCCAATCTGGTAACACGATAAACCTGGGTTATGAACCTGCTGGGCAAGATTCGTTGATCCTGCAGAGAGCTATCCTGAGAGAGCTGCAGTCGGACACCATCAGAGGTGGTTGTCATATTAAAATGTTCTTGCTGCCTTTATTTTTTTGGGTTAAGTCAACAGAACTTTTCTAGCCATCTGAACTGGTTGTGGTTAGCACTGTCACCTCACAGCAAGCACTGGTTCGAGTCCCGGCTGGGCCATTTGACATTTCTGTGTGCATGTTCTCCATGTGTTGGCGTGGGTTTCCTCCGGGTGTTCCAGTTTCCCCCACAGTTCAAAGACATGTGGTATAGGTGAATTGGATTAACTAAATTAGCTGTAGTGTGCGAGTGTGTATGGGTGTTTCCCAGTACTGGGTTGTGGCTGGAAGGTCATCCACTGCGTAAAACATATGCCAAAATAGTTGGTGGTTCATTCCACTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa19580
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000101004 | Essential Splice Site | 669 | 1191 | 22 | 45 |
| ENSDART00000142957 | Essential Splice Site | 782 | 1408 | 26 | 52 |
Genomic Location (Zv9):
Chromosome 1 (position 50100753)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 48949934 |
| GRCz11 | 1 | 49594354 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTTTTTCTTTTAGGTGATAAAGGACCTGCTGGGCCACCTGGGGTCAAAG[G/A]TCTGTAGATATCAGAGAAACGCATTGACAAAACTACTGCAGTTTACATGC
Long Flanking Sequence:
ACATGTTGTCTCTCACAACACAACAACATTTAAACAGTGTAGATTAGTGTACAATGTTTTATATTTACTTTATAATCATTTGACAAATTAGATTTTGATTAAAGTAACACAGTAGTTACTTTCCCTGGTAGTTATTTACTTTTATAATTATGTAACTCAGTTACTATTTGTGTGAAATGACTAGTAACTATAACTAATTACTCTTTTTAAGCAATCTGCTCAGACATTTACATAAAGTTATTGATAAAGAGGGACCAAAATTTAGTGAACGTGTTTTGCTGCTGCTGCAGGTGATGCAGGTGCACAAGGAGTACCGGGACTTACAGGAGCACCTGGACCCCAAGGCTTCCGCGGAGATTCTGGTGATCCCGGACCCAAGGGTGAACATAAATTCTCTTCACATTTCCCCATTTGAGAACTTTAAGTGAACAGTTTGTTTTTATAATCTTGTGTTTTTCTTTTAGGTGATAAAGGACCTGCTGGGCCACCTGGGGTCAAAG[G/A]TCTGTAGATATCAGAGAAACGCATTGACAAAACTACTGCAGTTTACATGCTGATTATTTTGTATTACTAAATTAGGTGATCAGGGAGAGAGAGGACCACGTGGCGCCACTGGTCAGTAAATAAGTAACTGTTGGTATACAAAGTCACTTTTGCATTAGTGATATGATAAGGATTTCAATATACCAAACTTTTTTTTCTGACAGGTGAGCCGGGTCAGCCTGGACCAGCAGGTCCTCCTGGTGAGAAAGGTCTTAAGGGATCAACAGGTGAGTTTTATCAGGGAGAGAGACACCAGATGGAAAGAAAATCTAAGGCAGTTTCGGGAAAAGTTATTTTTGAAAATAATGCATTACAATATTGAGTTACTCACCAAAAAGTATCTAATCGCATTACTTAGTTATTCTTTATAGTGAATATTGTTTGACGATACTGTTGGGTTTCATTTGCATTACCTTTTATCACCTGCCTGAGGCTTTCTTTCTTTTAAATAGAGTTCTGCA
Associated Phenotype:
Not determined