ZMP
COL7A1
Ensembl ID:
Description:
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Human Orthologue:
COL7A1
Human Description:
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Mouse Orthologue:
Col7a1
Mouse Description:
collagen, type VII, alpha 1 Gene [Source:MGI Symbol;Acc:MGI:88462]
Alleles
There are 13 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa20773 | Essential Splice Site | Available for shipment | Available now |
| sa20772 | Essential Splice Site | Available for shipment | Available now |
| sa20771 | Essential Splice Site | Available for shipment | Available now |
| sa33920 | Essential Splice Site | Available for shipment | Available now |
| sa12429 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa20773
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 |
|---|---|---|---|---|---|
| ENSDART00000033844 | Essential Splice Site | 670 | 1561 | 36 | 81 |
Genomic Location (Zv9):
Chromosome 6 (position 40152723)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 6 | 40224323 |
| GRCz11 | 6 | 40221859 |
KASP Assay ID:
554-6474.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TACCTGGAAGAGCCGGTGAACTTGGAGAAGCTGGCAGACCTGGGGAGAAG[G/A]TAACAAATAAAAATGCATTAGGATTTTGTCACTGTATCTTTTTTTATACA
Long Flanking Sequence:
CTGTCGGGAAAAAAGGGCGAAAAAGGAGAAGTGGGACCTAGAGGCCCTTCAGGAGCAGATGTGAGTTTTATGTTCTTGTGTGATTGAGTGGTGTCTGGTATTCAGTAGCTGGATGAGTGCTGTGTTACAGGGCTTTTTGCAATGAAAATAATGCCACAAAGCCATTGGTGCTGTCCATGGTGCTGAATCAACCAACAACTTACAGTTTTTTTCCCCAATGAATTATTGTCATTTAAATGTCTTATTTTTAAACACCATACTTGTTTTTCAATTATGTATTTGCTTTACAGGGTGCACGGGGTCTTCCAGGTGAGCGAGGTATGAAAGGAGAGCAGGGTGAGAAAGGACCTGCTGGTCCACAAGGTCCTACAGGCAGGGCAATTGGAGAGAGGGGTCCTGAGGGTCCGCCAGGACAAGCAGGTGAACCTGGAAAGCCTGGAATACCAGGAGTACCTGGAAGAGCCGGTGAACTTGGAGAAGCTGGCAGACCTGGGGAGAAG[G/A]TAACAAATAAAAATGCATTAGGATTTTGTCACTGTATCTTTTTTTATACATGTTTTTGAAGATAAATAGCTGATTGAAAAAATCATGATATGAAGATAATATAGAAATGAGATTATTGATTGTCTTTGTTGCAGGGAGATAAAGGGGAGAGAGGTGACAAAGGACCAGCTGTAAGTATCATTGCTGTCATTCATGCAAAGCGAATACATGTGAATGAAAGTAATCTAGCCTAATGAAGAAATAAACGTAACTGTTTTTAATTTTCATGTTTTAAGGGTCCAGCAGGATTACCCGGCTTAGGGGGGCCTCCAGGGCCAAAGGTATTTCACATTGTAATTTTTGTACACAATAGTATACAATTTGTAGTTTTCAATTTTGTTTATTAAAAATGAGTAAGTATGAGAGTAGGGAAGAAAGCCTTGAGAATATGCATGCATGCTCAATTAACGTAAGACATCATTTAATTCAATTTAAAACCCTGCATGGATTATACTTATCTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa20772
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 |
|---|---|---|---|---|---|
| ENSDART00000033844 | Essential Splice Site | 824 | 1561 | 45 | 81 |
Genomic Location (Zv9):
Chromosome 6 (position 40147397)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 6 | 40218997 |
| GRCz11 | 6 | 40216533 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACATTTTCTTGTTTAGGGTGACCATGGAGAACCAGGCATTGGAGTTCAAG[T/A]AAGTTTTCCAACTGAGTAGCGATAGAATGCTTTCCTTCAGGCGGTTTGAT
Long Flanking Sequence:
ATATACTGTAGGAGCAGAAAATATAGGGTAGAAAACGGTTATCGTCTCATGCCTAGTCTAAAGAATATAGTACAGTATGTCTGTCCATTTAGAGCTTGTGTGTGCTGTTTATGTGTGCATGGGTGTATATATGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTGAGTGTGTTCTCTATATTTGTATCAGCACCTTGTTCATATTAAATATGTATTCTGCACAGGGGAATCCAGGAGAACCAGGAATAAGAGGACCAACTGTATGTATATATGCACATTCATGTACAAAAGCAAATTAAATATAGTATTTCTAACCTTTGCTTCGATTTTTCAGGGTCCGATGGGTGGAAATGGACCCCCGGGGCCTCCTGGCGTGAAGGTTAATGCTGCATAATTTGATCTGATTGTCGTGAACTTTGTAATTATAAATAACAACGCATGTATATGTGCACATTTTCTTGTTTAGGGTGACCATGGAGAACCAGGCATTGGAGTTCAAG[T/A]AAGTTTTCCAACTGAGTAGCGATAGAATGCTTTCCTTCAGGCGGTTTGATACAAAGCAATGTGTTTTCGGAGTTACATAACTAGAGTTTACTCACTCTTCAATCTTTTCTCTTCATTTTTCAAGGGCCCTCCTGGACCTCAGGGCAACAGAGGTTTACCTGGACCTGCAGGCACTCCAGGAGCCATAGTAAGATCAAAACGCAATATTGGACTCATTCCAACAGCTCAGATGCTTTTGACCTCCGTCTCTCCGTAGAGGTCATTAGACAGTATCTGCAGCTTCAGCTTAGAGCCTCTTCACTCGCTCAGTTCATCTGTCTGTGTTTTATTTATCCTTGGTGCTTGTAGTGTTTAGTTTGCCCTTGTTCAGAAAGCAAAATTACAGTGTTTTTATTCCTCAAGTCCAGAAGGCCTGTTTCAGCAGATAGCACATAAATATTAGTATACCGTTGTTGTTCCGGTGGGTTTAACGTAGACATATTGTTTTCATAGATACTGAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa20771
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000033844 | Essential Splice Site | 919 | 1561 | 50 | 81 |
Genomic Location (Zv9):
Chromosome 6 (position 40143991)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 6 | 40215591 |
| GRCz11 | 6 | 40213127 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACTGTGCTGTGCAGTCTGTCACCGGACCCCCTGGAATGAAGGGTGAGATG[G/C]TGAGTTGTTGCCATGGTTACATCATAGCGAACACTGTGTGCAGATCAACC
Long Flanking Sequence:
ACTTGTTACAGTAATGAGGTTATCTCTTTAACATGATTTGATAAACAGGGAGAGGGGGGCAAGCCTGGGGTCCCAGGAAGAGACGGTGCTCCGGGTAAAGATGGCCTGCCAGGCTTAAATGGTAAACAGGTGAGTGCTTAGATGCCCTTGATGTTTACAAAGAGATACGTGCATTCATTTAATAATCCTCTACAACTGTTTTTCGTGTTTTTTCTCTCCTTTCTTATCTTCCCTACTTAACCACTCTTTCTCTGTTGTTATTATTTTTCTGTCACTTTATTCAGGGTATTGCAGGACCGGTCGGTCCCCAAGGACTTAAAGGAGAGCAAGGAGACAGCGGTCCTCCAGGAAAGGTATATCTGCATGTTTGAGTTTGAACGTAATATGTAGTTTGATTGAGGCTTTGTCTTTTATTTCCAACCTGTTCAATTTATCTCCATTTATTTTTCTACTGTGCTGTGCAGTCTGTCACCGGACCCCCTGGAATGAAGGGTGAGATG[G/C]TGAGTTGTTGCCATGGTTACATCATAGCGAACACTGTGTGCAGATCAACCTGTCTCACCTGCCTGACAGATAATCTCATTTGAGGCAAACATAATGTTAGAGCGCATGTACGTGAGCGCTTCAGCAGATCTTCTCTCAGTGTTGTCACACTCAAATACCAACCGAGCAGCAGCACAAAGTATTAAAGTAAACCTCGGACAAGTGATGACTTTTATTTGTTCAATCCAAGCAGAAAGGTTAAGTTTTGTCTGACTTTAAGCTAATGCTTTGTGACTGCCATGGGGAAAAAATGCTTTCCTTGATCCTCAGGTTTGTTTTTCATAGTAAAAAGTACTTGGTTTTTGTGTTCACTTTTAAAACAAATCAACAGAAGCTATGGAGCCAGATCAGTCTCAAAAAATAATACATTTACAAAATAAAATGTATACATGGATAGCACAATTCACATTTACAAAAAACTAGTTGTAAGTTTAAAACACAATTTGTTAATACACAAATCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa33920
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 > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000033844 | Essential Splice Site | 1064 | 1561 | 56 | 81 |
| ENSDART00000033844 | Essential Splice Site | 1064 | 1561 | 56 | 81 |
Genomic Location (Zv9):
Chromosome 6 (position 40140228)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 6 | 40211828 |
| GRCz11 | 6 | 40209364 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAACAGGAAATCCAGGAACACCAGGAGATGCTGGACCACCTGGACCCACT[G/T]TAAGTCACTGACAGGTTCAAATTAAATAGTGTGTGTAGGCATTTAAATAC
Long Flanking Sequence:
AACTCATTCCACATTGTTTAGGTGATAAGCTAAATGATAACTACAGTATAGTCAGCCACAGAAACTGTCAAAAATCTAGCCTGCTTATTAAAGTAAATGTTTTTAATTGGTTCCAGGGTGACCCTGGCTTACCAGGTCCTCCGGGCCCTCCTGGGCCACGTGGATTAGATGGGACGCCAGGACTGGCAGGACAGAGAGGGGAAGCAGGTCAGCCAGGACCCCCTGGACTACCAGGAGAAAGGGTTAGTAGAGTCACTGCAGACACAAAAACAAATCTAGACTAAAAATGACATACGTTTAGGTAGACTATTACTTCATGTATTCAGTAACATTAAACACATTTCCTAATTTTTTGTTGTGTCCCTCTGCTGCATCTAATGATTGATTGATGATGAGTAATTCTGGTGGTGCTTTTTATTCTGTTTAAGGGTCTTAACGGAATTATAGGCAAAACAGGAAATCCAGGAACACCAGGAGATGCTGGACCACCTGGACCCACT[G/T]TAAGTCACTGACAGGTTCAAATTAAATAGTGTGTGTAGGCATTTAAATACAGTTTTTTCTTAGAGCAAGTATAACAGCGATGTCCTTATCTTCATATTAGGGTGCTGCAGGCCTTCCAGGACTTAAGGGTGATAAGGTATGTCATGTGTGGCTTGCAGAGCTTCTAGCCTACAATTTTTCTTTTTAATTTAAAAAATTCAGAAGCACTGTCAAAAATTTAGCAGCTGATGTCATGCAGATGAAAAGGGAGCTTACAGTACCCATTATGACAGAAAAATATGGGAGACATGATAAAGCAATGATGAACCAATGTAGGTAATTTAACAGTTGATGAAATGAAATAGATGAAATTAAACATGCTCGTCTTCATTTCTTGGTTTTGAACCGTTAAACTAGAACTTTTATTAACTGCATGGTAATTTTAAACATCTAGTTTGCTGGCAACATAGAGTTCTCATTAACAGATGGTTGGCACATGTAATGTTGCATTTTCAAACGCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12429
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 > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000033844 | Essential Splice Site | 1178 | 1561 | 63 | 81 |
Genomic Location (Zv9):
Chromosome 6 (position 40135348)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 6 | 40206948 |
| GRCz11 | 6 | 40204484 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GACAAGGTGAAAAGGGTGCAAAGGGACAGGAAGGACCACCAGGAGAACAG[G/T]CAAGAATTTTTATCAWCTATTTATAATGTATTTMAAAATGGTAAATATAA
Long Flanking Sequence:
ATACAGAGAGGTCTTACATAATCCTCAGGGGGTCATTTTGCATATTGGATATATATTCTGATCTTATTTGTACATAATTGATGGGTTTTATCTCTCTGTATTTGATTTTGAATCTTCAAGGGAGAAACGCAGCTGGTGGGAGGGCCTCCAGGAGAGAAAGGAGTGAAAGGAGAAACCGTAAGTCAGATTTTTTGATGGAGCTGTCTCAGGTGTTTAACCACTTTAGGTCACTTTATGAAAGATTAAAGTCCAATAATGAAGGTTAGGTTCCTGAAGGGACTCTTGCCTATGAGAAGTGGTCATAAAAAATTCATGCTTGCCTACCTCAGGATCTATAGACTGTTAACAAGTCAGTAACCAACAGGATAAAGGCAGATCTTTTGGGTCGATCTGATCTAATCAGTTATATTGATTGCTGCTCTGCTCAGGGTGAGCGAGGACCTAAAGGCGGACAAGGTGAAAAGGGTGCAAAGGGACAGGAAGGACCACCAGGAGAACAG[G/T]CAAGAATTTTTATCATCTATTTATAATGTATTTAAAAATGGTAAATATAAATGTATTAATGTTAATATTAGTTTTTAGTTGTTTTTTTCTATTCAGACAGAACACTTGTGGCAGGGCCGACATGAAAGAGAAGATTAGAAAATATGTGTAGCAGATTTTTGTTTATTAAACAAACAAAAAAAGCAAAAAAGTAATCCAGTGGTGTAGATTAGGGGTATAACGGTACATGTATTCATCCTGAACCGTAACAGTCCAGGGGTGATAGTTCTGTTCACATGTTCCCACAGTAAATACAGGCAGTCCAGATGTGCGTCACTGCTAATAGACAGAAAAAATCCTCAGCAGTGCAACAACTTAACAGTCATTCACAACGAACACCTCTGAAAACACTGATTGTTGCTAGAAGGGATACAGTGTTTTTCTGTTGTTAGCTGAATGTTTCACTCAACCTTTGAAAGTTTAATACGCAGTCTAATTATTCATTTTTATTTTTTATTATT
Associated Phenotype:
Not determined