ZMP
LOC568543
Ensembl ID:
Human Orthologue:
CA10
Human Description:
carbonic anhydrase X [Source:HGNC Symbol;Acc:1369]
Alleles
There are 4 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa6038 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa612 | Nonsense | Available for shipment | Available now |
sa20070 | Essential Splice Site | Available for shipment | Available now |
sa8624 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa6038
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000055264 | Essential Splice Site | 45 | 326 | 3 | 9 |
Genomic Location (Zv9):
Chromosome 3 (position 35035990)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 3 | 34821186 |
GRCz11 | 3 | 34950694 |
KASP Assay ID:
554-3968.1 (used for ordering genotyping assays)
KASP Sequence:
GTCTGCTGCTGAAATTTAAAGCTGMTGCTCTGAACTTTTTTCATTTTCAT[A/T]GTGCCGTCTTTCTGGGGACTARTTAACACTGCCTGGAATCTGTGCGCGAT
Long Flanking Sequence:
TTGAGTTTCTACGCTCTTAAAAAACTCCCATCTCTATCAGAAAGTTGTTTACTCTGAAACATCTCCGAGAATAAATTAATCATGTAAGGTCAAGTATGTCCTTTGGCTGTTTGTCTAACGTGACTAATTCCATCTGTTTCTTTTTTTTTCTCCCCCTTAAGTTTGTTTTTGCGAAACAAATCACATTAATATGCAGTTCTTTCATTTGGATGCACGATAATGACCTCGTTTTCAAAAGCGAAGCGGTGCTGCACCTGGTAATTAAGTGGTAAAATTGATTGCTAGTCAAAAGGTTGTCTCAGAGGATATCAAGCACTAGATCTAAACTCAATATTATCACCCACACCATGGATGGGAGTAAATTTGGGATGAGCAATTTGTGATAATCCCAAACATCCCCCCCGCTCTTCCAAACAGATCATGACCCATTAGAAAACGACAAACGGAGCGGTCTGCTGCTGAAATTTAAAGCTGATGCTCTGAACTTTTTTCATTTTCAT[A/T]GTGCCGTCTTTCTGGGGACTAGTTAACACTGCCTGGAATCTGTGCGCGATTGGGAAGAGACAGTCGCCGGTCAACATTGAAACCAGTCGCATGATTTTTGACCCCTTCCTCAACCCGCTACGACTCAATGCAGGGCAACGCAAGGTAAGTGGTAAATCAGATGAAGCTCTTTATCATATTTTCTTAAAACAACACACACACATATGCTGAGTCCCAATTTGCATACTTATTTTACGCCCTAAAAGTATGTCCTTTTTTTTTTGAAGGAAAAATATATACTTTTGAGTGTGTAAGAGAAGAGTATACAAGCTTTGGGACATACTACTTCCTCAGTTACAGATCATTGTGTTGCTTAGTTATGAGCCCTGTCAATCATCCACATCTCTGTCATATTTAATTTCCTACCTTACTGGAGACGCAGGAGCAGGATAATCTCCCATTCATGAGTTTTTAATGCAGAGAAATCTCCTCAGGTCTTTGGATAATTGTTTATTCAGAGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa612
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 |
---|---|---|---|---|---|
ENSDART00000055264 | Nonsense | 85 | 326 | 3 | 9 |
Genomic Location (Zv9):
Chromosome 3 (position 35036111)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 3 | 34821307 |
GRCz11 | 3 | 34950815 |
KASP Assay ID:
554-0522.1 (used for ordering genotyping assays)
KASP Sequence:
TCAACATTGAAACCAGTCGCATGATTTTTGACCCCTTCCTCAACCCGCTA[C/T]GACTCAATGCAGGGCAACGCAAGGTAAGTGGTAAATCAGATGAAGCTCTT
Long Flanking Sequence:
GACTAATTCCATCTGTTTCTTTTTTTTTCTCCCCCTTAAGTTTGTTTTTGCGAAACAAATCACATTAATATGCAGTTCTTTCATTTGGATGCACGATAATGACCTCGTTTTCAAAAGCGAAGCGGTGCTGCACCTGGTAATTAAGTGGTAAAATTGATTGCTAGTCAAAAGGTTGTCTCAGAGGATATCAAGCACTAGATCTAAACTCAATATTATCACCCACACCATGGATGGGAGTAAATTTGGGATGAGCAATTTGTGATAATCCCAAACATCCCCCCCGCTCTTCCAAACAGATCATGACCCATTAGAAAACGACAAACGGAGCGGTCTGCTGCTGAAATTTAAAGCTGATGCTCTGAACTTTTTTCATTTTCATAGTGCCGTCTTTCTGGGGACTAGTTAACACTGCCTGGAATCTGTGCGCGATTGGGAAGAGACAGTCGCCGGTCAACATTGAAACCAGTCGCATGATTTTTGACCCCTTCCTCAACCCGCTA[C/T]GACTCAATGCAGGGCAACGCAAGGTAAGTGGTAAATCAGATGAAGCTCTTTATCATATTTTCTTAAAACAACACACACACATATGCTGAGTCCCAATTTGCATACTTATTTTACGCCCTAAAAGTATGTCCTTTTTTTTTTGAAGGAAAAATATATACTTTTGAGTGTGTAAGAGAAGAGTATACAAGCTTTGGGACATACTACTTCCTCAGTTACAGATCATTGTGTTGCTTAGTTATGAGCCCTGTCAATCATCCACATCTCTGTCATATTTAATTTCCTACCTTACTGGAGACGCAGGAGCAGGATAATCTCCCATTCATGAGTTTTTAATGCAGAGAAATCTCCTCAGGTCTTTGGATAATTGTTTATTCAGAGGTTAATGTCTGAACACGTCTTTATATAAGTTCAGTATTGTTGTTGCAGATCCATTATAACACAGCATTAAAATATTTTCCAGTTGGCTAGATATTAACTAGAAAAGTAAAGTGCATAGACAA
Associated Phenotype:
Normal
Stage | Entity | Quality | Tag |
---|---|---|---|
Larval:Day 5 ZFS:0000037 |
whole organism ZFA:0001094 |
quality PATO:0000001 |
normal PATO:0000461 |
Mutation Details
Allele Name:
sa20070
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000055264 | Essential Splice Site | 93 | 326 | 4 | 9 |
Genomic Location (Zv9):
Chromosome 3 (position 35052696)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 3 | 34837892 |
GRCz11 | 3 | 34967400 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAAGCCAGAAGGCATCTAATCCTAAAAATAAATGTTTGGGTGTGTTTTTC[A/T]GGTCAGTGGAACGATGTATAACACGGGCCGGCATGTGTCACTGCGCCCAG
Long Flanking Sequence:
AGATAGTGAAACAATGTAGCCAGGGTGATGCGAATGAGGTTATAAAGTACTTTGTTCCCTTTGAAGATTTACCCGATGTGTCCTCAGGAGTTTGTTTTCTATATCAAGCTTGCAAAGTGTGAACTCTTAAGAAGACGATGCATGACTGAACTGAGTAGGGTACTTAATATTGAGGAAAAAGCCCCAATCAGATGCCCCACACCTCCATTTTCAGATGTCTCTGTTTTTTAAAACACTCCGTTTTCGGCGCTCGAAAACTCCGGTATAGTGTGGACAGAAGACGTAACCGTAGCAACTTACACATTTTAAAACTAAAACATATTAGTGTAAACGGGGCCTTACATTTTAAATAAATAGTTGGAACAAACAGCAAAGTTTTTTTGAAAGCTCACTTTGCTAGTGTTGAGGTACATCTTTAATATTGTTTTACCATAAATGGTCAGAAATGTGAAAGCCAGAAGGCATCTAATCCTAAAAATAAATGTTTGGGTGTGTTTTTC[A/T]GGTCAGTGGAACGATGTATAACACGGGCCGGCATGTGTCACTGCGCCCAGACAAGTCACACCTGGTGAACATCTCTGGCGGGCCGCTGAGCTACAGCTACAGGCTGGAGGAGATCCGGCTTCACTTTGGCAGTGAGGACAATCGGGGATCAGAGCACCTGCTCAATGGCCAGGCCTTCCCTGGAGAGGTGAGCCAACACACAGCCTGGAAATAATACATCACTTCTGCAAGATTCAATTAGAGCTGTCTTCCTTCAAACGCCTGGATGCGGCAACAAACCCTTGAAGTACTGGCACTGAAGTTAATGAACTAGGCAAAATTGTGATGTTAGTCCTTTTTATCACATTAGTTTTACACCATTAAAAAAAATCTACTACCCTTAGTCTGCTTTTCTTCGACAGCATGAAATGTACAAAAAGACCTCATTTGAGCAGATCAGAGAAATATTCCAAAGCCAAATAAGTTCAGTATATTGATCATTTTTGGATTTCTCTGGATTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa8624
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 |
---|---|---|---|---|---|
ENSDART00000055264 | Nonsense | 222 | 326 | 7 | 9 |
Genomic Location (Zv9):
Chromosome 3 (position 35061865)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 3 | 34847061 |
GRCz11 | 3 | 34976569 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTAAYACTGTCTTTTCAGATGATGCATACTTATTGATGGGGCTGAATATT[G/T]AGGAGCTGTATCCCGAAACCTCACGGTTTATCACTTATGAAGGGTCGATT
Long Flanking Sequence:
TTGAGCCATGAAACGTCAACCTACACCTTGGATGGCCTGAGGGTAAATAAATTAACAGCATTTTTTTTTTTTTCATTTTAGGGTGAACTATGTCTTTAAATTTGTATTACGATCAAAATTAATGTATGTTAATATTGGTGTATTTGATTTGATTGAAAGCTGCCTTCAACTGTAATATAAATCAAACGGTTTGCATAGTCTGAGTGTGAATTAAAATAGCTTTTGTGAGAGGCTTCATAACCCTTAATGAAAAAGGACAGGAAAAACAAACTTGGCTTTGTATTACCACCTGGTGGTCTTGGATATGAAGTGATATTTTATTATCTCAGCATTGCTATTGGAACAAAAAAAATGACAATATGATAATATCCTTCATTTTCCTGTAGGGAGATAGACATCTTAGGATGATGAAAAAAGTGTGTGTGTGATTCATCTGTTCTCATCGGTTGTCTAATACTGTCTTTTCAGATGATGCATACTTATTGATGGGGCTGAATATT[G/T]AGGAGCTGTATCCCGAAACCTCACGGTTTATCACTTATGAAGGGTCGATTACTATTCCACCGTGCCTTGAGACAGCTACCTGGATATTAATGAATAAGCCAATTTACATCTCACAGATAGAGGTGAAATACTGCAAGTTCTGGGAAATACAAAACATTGTCTCCACATTTTTTATATATTGTAATAAATTAATTATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATTTGTAAGTACCAAATTGTATTTGGTGTAATATAAAATACATTTATAAAATAAACAAATTTATTTGGAAAGCTTTAGGGTTATTAAGTCTTATTTGTTTTATTTCAGCTAAAATAAAAGCTGCTTTTAATTTTTAAAACCATTTTAAGGTCAAAATTATCAGCCACTTAAGCTGCATATTTTTTTCTGTAGTCTACAGAACAAACCATCGTTATACA
Associated Phenotype:
Not determined