ZMP
si:dkey-27a13.3
Ensembl ID:
Description:
Novel protein similar to mouse procollagen, type XVI, alpha 1 (Col16a1) [Source:UniProtKB/TrEMBL;Acc
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 9 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa16684 | Nonsense | Available for shipment | Available now |
sa15494 | Nonsense | Available for shipment | Available now |
sa10058 | Essential Splice Site | Available for shipment | Available now |
sa12058 | Nonsense | Available for shipment | Available now |
sa10956 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa16684
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 |
---|---|---|---|---|---|
ENSDART00000013049 | None | None | 232 | None | 10 |
ENSDART00000086717 | Nonsense | 203 | 1605 | 5 | 70 |
ENSDART00000143284 | None | None | 124 | None | 3 |
Genomic Location (Zv9):
Chromosome 19 (position 40142994)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 39006977 |
GRCz11 | 19 | 38594097 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGCACGTGGACTGCAGCTCCATTGAGAACAARCCTCTGGAGCTCCGCGGC[C/T]AGTTGCCYATCAGTGGACACACRCTGTTGGGGATGAGGGCTACTGATGCT
Long Flanking Sequence:
AAAGCAATGTTCATTTTCATCTAATTAAAATCTTTAACTCAACTTTTATAGTGATTTGACTACCTTTGGACTACAAAACTTTGTGAAATAATGTTTGAATGTCTGTGAATTTAGCTTAATTTGTGCGACTTCTTGCTCATTTTGCCAGATTAGGTCACAAATAATGTATTCTAAAAGGCTACATCATGCAGCCACTACAAATATAGCAAACCCTAACTGCAGCTTCAGAGTAATTTTAAATAACTCCCTTCTTCCCCCCTCTATTTATCACACTCCTTTAGTTCTCACTGGACTGGAATGGTCCAGATGGCAACCTGGCCCTGCGGGCGAGAGGAGCCGACCCTGAAGGGCCCATGGTGGGCTGTGTGTTCGACGGAGATGGTGTGGAATCCCTGATGGACAAGCGCTGGCATAAGGTTGCTCTGAGTCTGCAGAGAGAGTCTGCCTCTTTGCACGTGGACTGCAGCTCCATTGAGAACAAGCCTCTGGAGCTCCGCGGC[C/T]AGTTGCCCATCAGTGGACACACACTGTTGGGGATGAGGGCTACTGATGCTGCCCCTGTGGAGGTAAGGAGCTCATGTGTATTGTGTACAGTGTTGTTTCATTCATTTTATTTTCGACGTAGTACCTTTATTAATCCGAAGTCGCCACAGCAGAATGAACCGCCAACTTATCTAGGATATGTTTTATGCAGCGGATGCTCTTTCAGCCACAACCCAACACTGGGAAACATCCTTACACACTCATTCACTCATATACACCACAGACAATTTTAGCTCACCCAATTCATCTATACCACATGTCTTCGGACTTGTGGGGGACACCCACTCAAAGATGGGGAGAACATGCAAACTCCACACAGAAACGCCAACTGACCCAGCCGAGGCTCGAACCAGCGATCTTCTTGCTGTGAGGCGATTGTGCTACCCACTCACCACCGTGCTGCCCCAGTGTTGTTTCATTTGATTCATTTTTTTTTCTTTTTTTTTTTGCAATCAAATTGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa15494
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 > G
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000013049 | None | None | 232 | None | 10 |
ENSDART00000086717 | Nonsense | 687 | 1605 | 30 | 70 |
ENSDART00000143284 | None | None | 124 | None | 3 |
Genomic Location (Zv9):
Chromosome 19 (position 40075337)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 38939320 |
GRCz11 | 19 | 38526440 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTTTTCTCTGCATTAAATATCATATCTATGTCTGTAGGGTGATCAGGRTT[T/G]ACAAGGAGACTCAGGTACACCTGGTACACCTGGAGTCGCAGGACCTCAAG
Long Flanking Sequence:
TGTTTCATGTGTGTCTACAATAATCCAATGTCACGTCAACAATCCATCTACATCAGTAATTCTCAAACTTTTTTCATCAAGTACCACCTCAGAAAAAAATTGTTCCTCCAAGTACCGCCATAAGGACCAGTATTGAAATACAGTAGCGTAGTAGGCCGAGTGAAACAGCTACACCTCTGCACAGTTTAAAAACGTGGTAAATTTACTATTATTAAAAATATTTATTAATATTGGCCACTTTAAACATTATTAATAGTAACATTAACACTGTACTCTGCTTATATGTAGATCTACATCTTTAATTTAAGGAACCTTAAACAAATGTAATATTAAAATGTAAACTTACCTTAAGAATGTTTGTCTCAACAGGGGCCACCAGGTCTTCAAGGATTCAAAGGAGAGAAAGTAAGTTATTAATATGTGCAAATAAAATGTTAACAGTACCTCAACCTTTTCTCTGCATTAAATATCATATCTATGTCTGTAGGGTGATCAGGGTT[T/G]ACAAGGAGACTCAGGTACACCTGGTACACCTGGAGTCGCAGGACCTCAAGGAGAGCCAGGCAGGAACGGTCTTAATGGACTAAAAGGAGAAAAGGTCATTGTCACATAACATTGATCATGCGGGGCTCATATTAATTACATTGCAGTAAATTATGTGCCGTCAGTGGCAATTTTAATAATCATTCATCAAGTTGATGTAATAGATTACGCCTTTAGAAAAGTATTATACATGCAAGAAAGACATCACTATTTAAGCATGCTTTGTCATCTAGAAATCTGTTTTTTCTAAACGCATCTGTGTCCGTATGACCAGGGAGATGCTTGCGACAGCTGTCCGTCACTCCCTGAAGGAAATGGAGATGTTGTTGGCTTACCGGGACCTAAGGGAGAGAGAGGAGAGCCGGGTTTGCCAGGCGAGGGCCGAGAAGGGAAACAGGTGCACATTTTTTGCTGTCTTTCTAAATTAATTAGTAGTTTTGTTGTGAGTGTTACACTTATTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa10058
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 |
---|---|---|---|---|---|
ENSDART00000013049 | None | None | 232 | None | 10 |
ENSDART00000086717 | Essential Splice Site | 759 | 1605 | 31 | 70 |
ENSDART00000143284 | None | None | 124 | None | 3 |
Genomic Location (Zv9):
Chromosome 19 (position 40074900)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 38938883 |
GRCz11 | 19 | 38526003 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GAGARAGAGGAGAGCCGGGTTTGCCAGGCGAGGGCCGAGAAGGRAAACAG[G/T]TGCACAKTTTTTGCTGTCTTTCTMAATTAATTWGTAGTTTTGTTSTGAGT
Long Flanking Sequence:
ACAGTACCTCAACCTTTTCTCTGCATTAAATATCATATCTATGTCTGTAGGGTGATCAGGGTTTACAAGGAGACTCAGGTACACCTGGTACACCTGGAGTCGCAGGACCTCAAGGAGAGCCAGGCAGGAACGGTCTTAATGGACTAAAAGGAGAAAAGGTCATTGTCACATAACATTGATCATGCGGGGCTCATATTAATTACATTGCAGTAAATTATGTGCCGTCAGTGGCAATTTTAATAATCATTCATCAAGTTGATGTAATAGATTACGCCTTTAGAAAAGTATTATACATGCAAGAAAGACATCACTATTTAAGCATGCTTTGTCATCTAGAAATCTGTTTTTTCTAAACGCATCTGTGTCCGTATGACCAGGGAGATGCTTGCGACAGCTGTCCGTCACTCCCTGAAGGAAATGGAGATGTTGTTGGCTTACCGGGACCTAAGGGAGAGAGAGGAGAGCCGGGTTTGCCAGGCGAGGGCCGAGAAGGGAAACAG[G/T]TGCACATTTTTTGCTGTCTTTCTAAATTAATTAGTAGTTTTGTTGTGAGTGTTACACTTATTTTATCATCGAAGACTTTTAGGACAACACATACATTTAATACACAAATAAACTTCATCTATATACAGTGACATCACCTATATTACTACAGGTTAACTATGTTTACATATAATTACTTTAACTGTTGAAGAGCCTATATTATCAAATAGGTTTATAAAAAAGGTCATATTTTGGTTTTGGTGGTCTTAATCAACAGGCTGATATGCATGCAAGGTCAAAAAACACCTTCATTGTCTTATAATATGCATTTATTTTTACCTAATTATCCCAACGACTCCATATGATTCGTTCAAAGATTCATTTGTTCCCAAACCTCTTCTTAACAAGATGCTAACCTGCGCTGATTGGTCCAATGACTCAGTCTATGAACAAAAACAAAAAAAACTTGCTTATACATCTTGCAAAATCTAAACTCTTCCTTTATTTACTTCTGTAGGGTC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12058
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 |
---|---|---|---|---|---|
ENSDART00000013049 | None | None | 232 | None | 10 |
ENSDART00000086717 | Nonsense | 1084 | 1605 | 49 | 70 |
ENSDART00000143284 | None | None | 124 | None | 3 |
Genomic Location (Zv9):
Chromosome 19 (position 40044978)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 38908961 |
GRCz11 | 19 | 38496081 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTCAGCAAGGTCAAAGAGGGACAGATGGGAATCCAGGACTGAAGGGCGAA[C/T]AGGTRAGTTAACTGTACTTATGGGTGAAAWATGCTAATTTTGCAGTACCG
Long Flanking Sequence:
TGTATGGAACCAGACTGAACAACTTGTTGTTAATTACATATTTTACAGTCTCTCCTGGAAATAATACGTAAAAACTTTAACTCATCTGTGTTTTCAGATTTTGGTGAGGGGAAAAACATAACAAGGTCATTAAAACTGAAATAAATCAAGATACTTAAAAAAAAACTCTAATAAACAGGATTGATTTACAAGCCAAGCCCCAAAACAAGTTTATAGACGCTTATAATAAGACGATATGGCAACACCGCTAGAGTGCAAAAGCCACCACAAGTTTCTGATTTATGTCATTCCGTTCAGATTGCACAACATTGGTCAAAAATTGCAAATAGCAAATCCACAAGACGCCTGATAATCACTTACTACTTTTGTCAAATATTCAGTGAACAATAACTAAATTTTTATTTCGGGAGTACTTTGTCACTAATGACTTGTTTTTTTATGAAATTTAGGGTCAGCAAGGTCAAAGAGGGACAGATGGGAATCCAGGACTGAAGGGCGAA[C/T]AGGTGAGTTAACTGTACTTATGGGTGAAATATGCTAATTTTGCAGTACCGTTTAAATGAGTTGTGTTTGTTGATTTATAAAGGGTCCACCAGGAAGTCCTGGCTATCCTGGAACTATGGGACCACCCGGTCTCCCTGTGAGTAGTTACATCCTGTTGCCATATTGTTCACTAATTGTGCTTTTATATTGTTGAGTAATTGCTAAAAGTTAGCATTGTTTTTTCCCTTTTTTGTTGTTGTTGTTTTTGTTTTCAGGGACTTAAAGGAGAGCGAGGCAGTCCAGGCACTGTGGGGCTGAAAGGAGAATCAGTAAGAACAATGTTTGAACAATGCTCTAGATTATTTAAGGACCTTTTTTAGTTCATCCATAATTTTTAGGACATTCATTTTTTGATTCAAATATGTTTAAATGTTTGAAAATGCTGTTATAGTGTGGGTATATAGTTTGAAGAAAGTATTTTGCTCACTAAGAGCCTATTTAATTTGATCATAAATATGCTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa10956
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 |
---|---|---|---|---|---|
ENSDART00000013049 | None | None | 232 | None | 10 |
ENSDART00000086717 | Nonsense | 1227 | 1605 | 57 | 70 |
ENSDART00000143284 | None | None | 124 | None | 3 |
Genomic Location (Zv9):
Chromosome 19 (position 40037369)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 38901352 |
GRCz11 | 19 | 38488472 |
KASP Assay ID:
2261-3589.1 (used for ordering genotyping assays)
KASP Sequence:
GGGACCACCTGGAATGGAAGGACTTGATGGCAAAGATGGAAAACCAGGTT[T/A]AAGGGTCAGAAAAAMACTCTCATACAGTCTCCCATAGTTTTTNCTGGAAAA
Long Flanking Sequence:
ATTGACATAGGGTCCTGGGGGTCTGTATATGGTGATTAAAGCGAGAGATAGCATAGGTTTTTGCATAATATCCGTAAGCATAACATTAAGTGCTAATACTTCAAAGGATTTAATATGATGGATGATTCTGACACAACATTTATATTCATCTGCATTATCTCTTGCGGTCACTTTCACAAACAGACACTCTCAAATGTATGCTTTGGATGTGAGATATTGATACTTCTTCAGGGAATACTCATGCTTATTTTTCTGTTCCTCCAGGGTGTTGCTGGAGTTGCAGGCCCACAGGGGCCCACAGGTCCTCCAGGATCACCAGGGTCCCCAGGCATGCCTGTGAGTGCTAATAGGTTTTCAACACATCCAAACTTTCAGCTTATCATGACTCTGTATGCATTTATAACTTTATATGGTCATCCTGTTTTGTTTTACATTCTGTCCTTGTTTAAAGGGACCACCTGGAATGGAAGGACTTGATGGCAAAGATGGAAAACCAGGTT[T/A]AAGGGTCAGAAAAACACTCTCATACAGTCTCCCATAGTTTTTCTGGAAAATAAGTGCCCTCGTTATAAGGACTATAAGTTGCATAATGTGAAAATTGCTTCGCTTAGAGAAAGTCACAAGTTAAATTGGTGTCTTAGTCATATTTTGTAGTTTACTCCATGTGGAATGATGTAAAACATTTTGAAAATACAGTATTGTATTCTTTATTGCAATTTAATATATATGTACAAATATTTTATTAATTATGTATGCTTATAAATGTATGATTAACTTATTGGATTATTTCATAATAATATTTTTTTGTTTTCTGTAAACTACCCATGATAAATTTAATATGATAAATAACAAACAGATACACTATTTTATGTTTATAAATGTTTATATCCAATTTGAAACCACACGGTACAGATGGTTTCAGTTCAGAAGAGTTGTGAAATCAATATTTAGTGGAATAATCCTGACTTTCAATAACAAAAGTTGTAAACATTTGTTATTCTGAA
Associated Phenotype:
Not determined