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 |
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