ZMP
ENSDARG00000077245
Ensembl ID:
Human Orthologue:
COL21A1
Human Description:
collagen, type XXI, alpha 1 [Source:HGNC Symbol;Acc:17025]
Alleles
There are 8 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa24424 | Essential Splice Site | Available for shipment | Available now |
sa15530 | Nonsense | Available for shipment | Available now |
sa16013 | Essential Splice Site | Available for shipment | Available now |
sa37804 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa37805 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa24424
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 |
---|---|---|---|---|---|
ENSDART00000066866 | Essential Splice Site | 27 | 957 | 1 | 29 |
Genomic Location (Zv9):
Chromosome 24 (position 547758)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 24 | 487730 |
GRCz11 | 24 | 217389 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GATTATCCTGGTGTTTTCACACGCTGCCAAGGACGATGATGTTCGAGCAG[G/A]TATGATCAGATTCTGATAATGGCTCAGTGGTTAGCACTGTGTTTCTGTGT
Long Flanking Sequence:
GCTTACACTTTATACAGGAATGAAAACATTTGGGTCAAATCACAACACTGTGTGATGTAAATATGAGCTGGCTTCATGAAAATGACCTTTCATTTAAGTCTACTATTATTATGATTCTTTTAAACTGAAATATATAAAGTATATAGCTTTTAAATACACTTAATATTGCACTTAATTATGTTTTAGTATATTTGGCTTATGCTGCTTTCACATATACAGTACTTATCTTCCACATAATATTATATTCTCCCCTGGTTTCAGAGGTGAAGAGTATAAATATGCTCTAAATAATTTGGCTTATTTCATTATCGTTTCTGCAAAATGCACTAACTAATGAGACTAACTCATGTTAATGTTCTGCTTCAGCAGGGCTCTGAGGATTGGTGTTGAATGTGAACGGCTGGATCTTCAGTTGGGAATGTCGTGGGTTTGGAAATGTGTCCCAGCACTGATTATCCTGGTGTTTTCACACGCTGCCAAGGACGATGATGTTCGAGCAG[G/A]TATGATCAGATTCTGATAATGGCTCAGTGGTTAGCACTGTGTTTCTGTGTGGAGTTTGCATGTTCTCCCCGTGTTGGTGTGGGTTTCCTCCGGGTGCTCCGGTTTCCCCCACAGTCCAAACACATGCACTATAGGGGAATTGGCTGTAGTGTATGAGTGTGTGTGTGTATGGGTGTTTCCCAGTGTTAGAAGGACACCCGCTGCCTTAAACATATGGTGGAATAGTTGGCGGTTCATCATGTCTTGTGTTGACTCTACAGGCTGCAGCACTGCGGTTAATGATCTGGTCTACATCATGGACGGCTCCTGGAGCGTCGGCGACGTGGACTTCGAAACTGCCAAACGCTGGCTAATCAATGTCACCAGCGGTTTCGATGTCAGCTCGCACTATTCTCAAGTGGGCGTCGTTCAATACAGCGACACCCCCAGACTGGAGATCCCCTTGGGTCAACACAAAACAACCCAACAGCTGATTGAAGCCATCGAGAAGATCAGCTATT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa15530
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000066866 | Nonsense | 256 | 957 | 3 | 29 |
Genomic Location (Zv9):
Chromosome 24 (position 550584)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 24 | 490556 |
GRCz11 | 24 | 220215 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CATCAGAAAGCCAARAAGATCCAGGGCTCACTGGTGTCAGAGGGGGCGTA[T/A]CTRCTGGAYAAGACCACYGACATCACTGAAAACACAAGGTCAGGGNNNNT
Long Flanking Sequence:
ATTTTGAACATTTAAAGAATAAAAAACAATAAAATAAACTAGATTAAATAAGAAAGAAAAGATTTCATTACATCATTTTACACAGTTGAGTTTGTATGCTTTTACTCGCTGCTGGATTGTGCACGATCGTCATATTTAGTGCTGTCAGATCTCTTATTGATTGAAATAAAATGTGGAGCAGGATTAAAAAGCTGGTTGGGAAGTGCATGATGCAACCCTGCAGAATCTGTGTGTGGGAAAGCATCTGAAATGATGAACCTGTGAAACGTGTTATGCAGAGTGTGTGTGTGGTGTGAAATGAGTGTGTTAAATATGTACTGCAGAGTGTGTGTGTTACTGCGTCTTTAATGAGTGTGTTAAATGTGTCCTGCAGAATCGGTGTGTCCGACACGCATCCCTGTGGCGTCCCGGGACGAGAAAGGTTTCGAACTGATTCTGGGCATGAAGATCCATCAGAAAGCCAAGAAGATCCAGGGCTCACTGGTGTCAGAGGGGGCGTA[T/A]CTGCTGGACAAGACCACCGACATCACTGAAAACACAAGGTCAGGGTTTATTTATTATGTACACTGTAAATAACTGCTGTAAAATGTACATATGACTGCACTGTACAGGAATGAGTACAGTAGTTTCCTCAGGGTGTGTGTTCTGATCAATGTGTGTGTTCTGGCTGATGTGTTTATTGTTTTTCAGGGACATTTTTCCGGAAGGTCTTCCTCCGTCGTATGTGTTTGTGTCGACACTTCGTCTGAAAGGCTCTTCGAGTACGGAGAGTTTTGACCTGTGGAGGGTGAAGTCTAAAGATGGGCAGATCCAGGCGGCGGTCACGCTCAGCGGACTGCAGAAATACATCAGCTTCACCACCACTAACACCTTTAATCAGGAGCAGACCGTCGTTTTTGATGCGCCAGGCATTGAGGTGAGCGAATCTACCTGAGTGTTATTCTGTAGAGCTGCGTCTGAGGCAGCAGTGTGAACTCTTTACTTCACTACAGAACTGAAGGACA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16013
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 |
---|---|---|---|---|---|
ENSDART00000066866 | Essential Splice Site | 657 | 957 | 19 | 29 |
Genomic Location (Zv9):
Chromosome 24 (position 573994)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 24 | 513966 |
GRCz11 | 24 | 243625 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CGCAGGGGCCTTCAGGGACCCCTGGAGCAGACGGAGCYCGCGGCCCCAAG[G/T]TGAGAATCCTCCARAGACGCGCTAATTTTTAATKATTAATTATTCTTATT
Long Flanking Sequence:
TGACCGACAAAGCTTCAGTATTTTGGGCTGTAATGTGAGTGTTTAACAGTTTTTGGTGTGTTGGAGAATTGAGACCAAATAATTAAATTATTGAGGAAACATTTCTAGAGTTCATAAAAAAGTCAATACAGTAATTAAACTAGCGCATTAGACATATTTCTGTACACCTTTCCATTAGGTGTTGTTGCATTACATTATTACAATGAATATTCATCTTTTTCATTTGTTATCTAGCTAAAATAAACACCTTACACATAATAAAATAGATGGTTATGGTTTGAATGTTAATGTTGTAGGTGTTATTATTCATTTGAATCATTATATATATATATTACACACACCACACCACCACTGCCAAGTAGACATCAAATTGTGAAGTAATATAGGAAGATTTGTTGTGTGTGTGTGTTTACTCTTATCAGCTGTTGTGTGTTTGTGTCCTGCAGGGGGCGCAGGGGCCTTCAGGGACCCCTGGAGCAGACGGAGCTCGCGGCCCCAAG[G/T]TGAGAATCCTCCAGAGACGCGCTAATTTTTAATTATTAATTATTCTTATTATTAATTAGACAGATCACATGTGCTGTTCCTGGAGCAGTGCTCATCAGAGGAGTGTGTTCACTTAACTGTGCTCACTATTGCACTCTTCATTTAGACAGAGATTGATTGTGTCTGTAGTCAATAATAGAGATGTTATGTGTGGCTTGAGGATTTATGTGCACTAAAATATCAAGAAAAAAGGTTAAATAACATGAAGGGAATTAATTCATCAGTTAATCTGGATTTATTATCAGGTATGGGGTTTAGTTAACTGTTCATATGTGAGTCTGCACCACGAAACTCTGACTTCAGTGTTTAGCAATGAAATCAAATCAAATGTAGACAGTTGAAGTCAAAATGATAAGCCCTACTGTCAACTCTGGGATTAAGAATGGAGTTTTAAATGTGTGTGTGTGTGTTCTGCATATGTGTGTTTGTGTATAAATTTATATATACGTGTGTGTGTGTGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa37804
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000066866 | Nonsense | 694 | 957 | 21 | 29 |
Genomic Location (Zv9):
Chromosome 24 (position 574915)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 24 | 514887 |
GRCz11 | 24 | 244546 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGCAGGGAGAGTCGGGATTCCCAGGAGCTCAGGGAGCCACAGGCCTTCCT[G/T]GATTTAAAGGACACAAGGTAAAAACACGGTAAACAAGCGGCAGAAAAAAC
Long Flanking Sequence:
AATGGAGTTTTAAATGTGTGTGTGTGTGTTCTGCATATGTGTGTTTGTGTATAAATTTATATATACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTGCATATGTATGTTTGTGTGTAAATTTATATATACGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTGCATATGTATGTTTGTGTGTACATTTATATATATACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTGCATATGTATGTTTGTGTGTAAATTTATATATATATGTGTGTGTGTGTCCAGGGCAGTGCAGGAGAGACGGGGGGCGCAGGTGCTCCTGGAGCTGCGGGTCAGAAGGTCAGATCTGCTGCCTCTGCTGCTGTTTTCCATTCTGCCGTCCGTCACATTCAGAGTGTATTCTGTGTCTCCCACAGGGCCAGCAGGGAGAGTCGGGATTCCCAGGAGCTCAGGGAGCCACAGGCCTTCCT[G/T]GATTTAAAGGACACAAGGTAAAAACACGGTAAACAAGCGGCAGAAAAAACCTGCATTCACTGCACTGCAGAAACTGCTGCTCTTACTCAGAGTTTGTGTCTTGTTTCTAGTCCAAAAATCACTGAAATTAGGAAGCATTTTCTACACAAGCTGAAAATATAGTGTTGTTTTCAGAAATGATGAAGACTTTCTCCTGAAAACAAGCTAAATATCTGACAGTGGGGGAAAAGGAATAATCTTATGTCTAGGAAAAGAAAGACCCCGTTGGCAGATTATTTAACTTGTAGCTTTAAGGATAAACTTGATAAGTTTAGACTCACTATTGCGGAAAGTAAGACTGTTTTAATCAAAATCTGTTTTGCGTGTCTAGAAGAAAGAATTTTGAGATATTTGGATTAGAAACAAGACAAAAACTCTCAGTGAGAACAGCACTTTTTTTTTTAATTGTTGCAGACTGATGCTGGGGGTTATGTGAAAGAAATCTCCTCTTCTTGACTAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa37805
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 |
---|---|---|---|---|---|
ENSDART00000066866 | Essential Splice Site | 804 | 957 | 26 | 29 |
Genomic Location (Zv9):
Chromosome 24 (position 582533)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 24 | 522505 |
GRCz11 | 24 | 252164 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCCTCCGTCAGACGAGTACTTCATAAAACTCTGCAGGGACGTTCTGAGAA[G/A]TGAGTATCCGACCTTCCTCGAGGTCATTATTCTCTCATGAACAAAGAGCC
Long Flanking Sequence:
TGTATTAAATCCTGCAGAGAGGCTCGCCTGGTGACCCTGGGCTCAAAGGTCCAGACGGGCAGAAGGGGGACATGGGGCACATTGGTGTTGTCGGACCGCGTGGATTCCCAGGTCAAGACGGTTTACCAGGACAACCAGGCAATCCAGGCTTTCCAGGAAAACCTGTGAGTATTCCTGCATTTCTCTGAACCATGTGATACCAATTAAAAATGTTGTCATAGCCAGCAGGTGTTTTCCTTTTGCGAGAAATAAACAAATGGTAAACAAAGCAGGGCGTGTGCCGCGGCCATGTCAGCGCGCATCATCTCAAGTCATTATGAAGGAGAGCAGAAAGCCTGAGGTCAACGCTGTGTAATTGAGTCGCTTTCTTCTGTCTCTTCCTGTACCATCATCTCATTTCTTTTGTGTGTTTTTCATCTAATGAGTGGCTGGATCTGTGTTTCAGGGGAAGCCTCCGTCAGACGAGTACTTCATAAAACTCTGCAGGGACGTTCTGAGAA[G/A]TGAGTATCCGACCTTCCTCGAGGTCATTATTCTCTCATGAACAAAGAGCCCAAGGAGCTTTTTTCCTCTTCCCTTTTTTAATACGAACCACCCTGCTATGTAAAGCGCCCAGAATAGCACGCAGCTTCCAATTAAAGCTGTTAGATGAAAGCTAAGTTCACCAGAAAGGAACTTTTGTTGCGGAAACTTGCTGAGCTCTCGCCGTGTTTTTCACGGTTTGCTTTGAATGAAAGGGGTCGTATCATACATTCTGTTATCGCTGTGCTTTTCCTCCCTGTGGTCCACTTATAAACTTAGCGAGCTGCTTCATTGCGTACTGTCAGGAGCTCATCATTGACTGATCTGGACTGCGCTTTAACAGCACATCCTCAGATGTTATATTGAGCGCATCAGCGGCGCACACTCGCACACAAAGCCTTTATAAACCATGAACCAAAGCAATCTTTGAGGAAAATCATAGTGTCACAAACCTAAATTTACAGCACAGCAGCTGCAGAAGT
Associated Phenotype:
Not determined