ZMP
uaca
Ensembl ID:
ZFIN ID:
Description:
Novel protein similar to vertebrate uveal autoantigen with coiled-coil domains and ankyrin repeats (
Human Orthologue:
UACA
Human Description:
uveal autoantigen with coiled-coil domains and ankyrin repeats [Source:HGNC Symbol;Acc:15947]
Mouse Orthologue:
Uaca
Mouse Description:
uveal autoantigen with coiled-coil domains and ankyrin repeats Gene [Source:MGI Symbol;Acc:MGI:19198
Alleles
There are 4 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa23283 | Essential Splice Site | Available for shipment | Available now |
sa23284 | Nonsense | Available for shipment | Available now |
sa23285 | Essential Splice Site, Missense | Available for shipment | Available now |
sa7446 | Missense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa23283
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000100628 | Essential Splice Site | 111 | 561 | 5 | 17 |
ENSDART00000146957 | Essential Splice Site | 106 | 761 | 4 | 14 |
Genomic Location (Zv9):
Chromosome 18 (position 19841848)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 18 | 20072071 |
GRCz11 | 18 | 20061137 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTGGCTGCAGCCGGCGGTCACTCTGTGTGTGTGCAGAGTCTGCTGCAGG[T/C]ACGTGCATTATGTTTTCCCGCTAACAATTGCAGGAAGAAAGAGTAATGAG
Long Flanking Sequence:
AAAACATGACTTTCAGTAATATTAACGAATGCAGTATAACATTTAAATTAATAACTTATTGCAATAAAAACAAGAACAATCACATTTATCATACAGTGGAGTTCAATGCTGAATACACTAGTAAAGCACAATCCACTATTGCTTTGAATTGTCCTCTATCCGTCAGGTGACAGTATGTATATTTAGAGTAAATCTGATTAGTTTACACCATTTAATTTCAGGTAGCTTTTAGCAAACAAACAGAGGGTTATGTTAAATTTTAATTCACAATCTCTAAACCATGCCTATCATTCTTCCTCTCTTCTTAGATGGCCCCTGGGCTATAGTTTGGGCATCTCTGGTTTAACAGTTTCAAGCTTTTTGGAGGTTATTGTATGTTTGCTTGTAAATGTAATTACAATGTAATGTAATATAAATAATTTGTCCTCTCTCAGGCAAAACAGCTCTTCATCTGGCTGCAGCCGGCGGTCACTCTGTGTGTGTGCAGAGTCTGCTGCAGG[T/C]ACGTGCATTATGTTTTCCCGCTAACAATTGCAGGAAGAAAGAGTAATGAGAAAGCACTTTGGAATGTGTCAGTGTTGACGTATAACCAGCCCTTCAGCGATTACACTGGCAAAGACTGCTCAACGTTTTCTTTTCTTTCCTTCACCGCTATGCTTTTTGTTTTATGTCTAAATCCCATGTTTATTTGCTTCCTTCTTTCTCTGGACTTTCTTTTTGCTTTTGATCTCCACATAAAGCTGCGTGCTTAAGGCAAGGCTGGAGCAATTTACTGCACTTTTTTGTATCATAGCAACAGTTCTTTTGCTCACAAATGTGACGCTGAGAATTTGAGGTGTGTTATCTGTGGTTCATTTGTGATTTCTCTTTGGTGAAGCTTTCATGTGTCTGCAGCTGTAATTAAATATTGGAAATGAATGCAAATGAGTTTCAATAAGCAGTCAATTGCATTAAAGCAGCATAGCAAAAGATATAAAAAAACATGGACAAAGTGAAGATATCAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23284
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 |
---|---|---|---|---|---|
ENSDART00000100628 | Nonsense | 253 | 561 | 10 | 17 |
ENSDART00000146957 | None | None | 761 | None | 14 |
Genomic Location (Zv9):
Chromosome 18 (position 19850316)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 18 | 20080539 |
GRCz11 | 18 | 20069605 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATTCTAGTTTTTAAATCTTGTAGAAGATCCTCCCACGTGGTCTGTTTGTA[T/A]ACTGTGAAGCGTGCTCTATTGCACAGGTCTCAAACTGTAAAATTAAATGT
Long Flanking Sequence:
GTTTCTCAGATTGCATTGCTTTAACAAATTAAGTTAATTAAAATTTAAACAGTATTTTTTTTATAAATGATATAAAAATATTTAAATCAATGGGTCACTTAGAAAAAGCTAATGCAAATAAAGAGATTTGTTAACCTTCACAAAAATAGCCATATCTTGTTATTTCTTAAGTAGATACCATAACAATTGATTAATAGTTTCTCCCTCTGCCCCACGTCTTATTTTGTGATTTATTTGTTGGTAATCTGTCTAGGACTGCGCTAATCTTAGCTTGTGAGAACTCCTGTAAAGAAGCGGTGGAGATAATCCTGAAGACTAAGGCTGATGTTTTTGCTATGGATGTTCATGGGCATGACGCCTATCACTATGCCAGAAAAAGCCAGAAACAGGACTTGATCACACTTGTCCAACATGCACTGGAAAGTGCAAAAGGTAACACTCCAGGATGACATTCTAGTTTTTAAATCTTGTAGAAGATCCTCCCACGTGGTCTGTTTGTA[T/A]ACTGTGAAGCGTGCTCTATTGCACAGGTCTCAAACTGTAAAATTAAATGTAATACTTTAAGATAATCTATATCTCCAGTGTACTTTTTACTCTCCATAAAAATGTTGATAGAAGCTGGCAAGGTGTTAAACACAAACAAACTAAAGGTGACACAGTTTGAAATGGAACTGAACATTTTGTCCTGTTTTTAAGCAATATACATGCACACGGTGAAATGAAACGCCACTTAATCTTAAGGCCAGAAATGCTGTATTTTTCAGCAAGGCAGGGCAAAGTGGTGCTCTTGTTATCCTCTCATGTAGCTTTTACTGGACCTGCTGGTCATGCACATAGCAGGTCAGTTGAGTTTAAACCATGAACCAGTAGCGCACTGTCATTTCTGGATTATGTCGTGTCATTACAGAGACGTGTCTGATAGATTCAATTCCTGCTGTGCTCACAGAGACTTCACAGATCCAAACACTAACAGAAAATCCATTTTCACGAGTTGACAAGTCTGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23285
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 > G
Consequence:
Essential Splice Site, Missense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000100628 | Essential Splice Site | 390 | 561 | None | 17 |
ENSDART00000146957 | Missense | 285 | 761 | 11 | 14 |
Genomic Location (Zv9):
Chromosome 18 (position 19856867)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 18 | 20087090 |
GRCz11 | 18 | 20076156 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGAAAGAGTGTGTTTTACTTTAACATTAGCCTTGTGAATTATTCAGGTC[A/G]GGCCCCCACAGTCGGCTCCAGCACCCGTGAGATCTGCCCCGATGGAGTTA
Long Flanking Sequence:
TCGGAGTCAAATCTTTTATGAATAAAAATTGATAATATTTAAACAAGGTGCACTCAGGTTTAAACCTCAGCTGGATGTTTTCATTCATTTAGAGCTGTGTTGGACAGTAATTTTCAGAAACCCATAATAGGAGCTCTTTAACATACAAAAACTATTTTCACTAAACAAATGCATGTAGATTTAACCAGTTACGAACTGGCAAGTACAATGTTGAATTTCATATAAAATTTCGTAGAAAAAAAATACAACAAAACTAAATAAAAACCACTAAATAATTGTTTTTTTGATTTCAGTGACTCAAGTAACGTGGCTGAATCACTTTTAAAATGCAAGCACTTTTCTGAGAGTATATAGAGATTAAAGGGCAAAATCCTCAATCGATGTCATCCATATTTTATATCCCATATTCATCAAACTGAACATTTACTGCTGTTGAATTAAAATCGAGACATGAAAGAGTGTGTTTTACTTTAACATTAGCCTTGTGAATTATTCAGGTC[A/G]GGCCCCCACAGTCGGCTCCAGCACCCGTGAGATCTGCCCCGATGGAGTTATTGCCCGGCGAGGTGGAGGCCCTCAGGAGAGAACTACGAGATGCTAGACGAAGACAAGAAGCAGCAGAGGCTGAGGTGCACAAGCTGGATGCGGCACTAGCTCTGCGGGCTCAGGAATATGAAGCACTGAGAAGATCCAGCGAACAAGCTCTTCACGCATCCCACAACAGAGCATGGGAGCTGGAGGAGGCATTGGGTGAGGTTCAGAGAAGGATGGCAGGATCAGAATCCCGCGTCAGGCAAATGCAAGCTCATCTAATGGCCGTCAGAGAGCACTTGGTGGAGGAGCTGAGAGTCCAGCTTCATGAGGTTAAAGGTCAGCGGGAGGCAGCCGTAGCCGAACTGGGAAGAATGCAAAAGGAGCTCCATCAAAGCAGGAGGGATGTGGAGAAGCAGAAGGAGAATCAGAACTCCTTGATGCAGGAACTCAGCCGGCTTTCTCAGGAGCTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa7446
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:
T > A
Consequence:
Missense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000100628 | None | None | 561 | None | 17 |
ENSDART00000146957 | Missense | 729 | 761 | 13 | 14 |
Genomic Location (Zv9):
Chromosome 18 (position 19863402)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 18 | 20093625 |
GRCz11 | 18 | 20082691 |
KASP Assay ID:
554-4083.1 (used for ordering genotyping assays)
KASP Sequence:
TTTCTTTTTTGCAGGAGTCTGGGAGGCATTACAGACATGTGCTTTCAGTA[T/A]ACAGAACACGGTTGCTCAGTGCAGCACAGGTAGCGTTTKACTTGCTTGTG
Long Flanking Sequence:
TAATAAAAAAAGAGGAAAGCCTGAAATGGTTCTTTTTTGTCATTGCTGTAAAAAATCCCTTGGGAACCTTTAATTTAAGGTGTGCAGGTTCAAAATGGGTTGCCAGTGTGTTACTTTTGGATGTTTCTTAGCAACAAGGGCATCAGAGGACATGAGGTATTATCTTGAGAGGCCTTTGTCCCTGCTAATTCAACAGTAGCAATGTTTGCAATCCCACAGAGTAACATGAAGATGTCCTCTTATATTAAATGAAGTCTGCTGTGACTCTGATGGCAATGATCATGAATTACTCTCAAGAGTCATCTTAACTTTCTTCAAAGTACTTGCTGCAAAATAGAGCAGTTGTCGACATGAACTGCTTGTTCAACATGCATTGTACATTTCTAAATGAAAGTTTTATACATTATTCATTGTTCTTTTGTACCTGATGTGAGGGGGAAAATCACTTGTTTTCTTTTTTGCAGGAGTCTGGGAGGCATTACAGACATGTGCTTTCAGTA[T/A]ACAGAACACGGTTGCTCAGTGCAGCACAGGTAGCGTTTGACTTGCTTGTGTTGTATAATGTATGTTATATAATGCTCTTTCCAAGTAAACCTGTGAAAATGGCTGCTTTTACAGGGTTACATGGATGAAGAGGCAAGAGTGGCTCTGCTTCAGATCGCTAAAATGAGGGAGGAGTGTGTGTGCTGAGCATTCATGTTTTCTGTTCCTGTATATACATTTCTGCTCAAAGATCTAGAATCTGTCAAACCAACACAATCTCACGGCAATTCGTATATTTTTGATTCAGTGGCTAATTCATTTGAATTCGTACGATCTAATTCATACAGTTTAGTACGATTTGCTCATCACCCAATGATGGTTGGGGTTAGGGGTGGGGTTTCTTGAATCGTACATTTTCTTACAACTGAACTCATACGAATTCGTACGAATTAGCCACTAAACGGACAAAACGTAAAATACTTATGTTTCCTCGTGAGATCAGGCTGGTAAAAATTCAATGT
Associated Phenotype:
Not determined