ZMP
zgc:136652
Ensembl ID:
ZFIN ID:
Description:
2-hydroxyacylsphingosine 1-beta-galactosyltransferase [Source:RefSeq peptide;Acc:NP_001037790]
Human Orthologue:
UGT8
Human Description:
UDP glycosyltransferase 8 [Source:HGNC Symbol;Acc:12555]
Mouse Orthologue:
Ugt8a
Mouse Description:
UDP galactosyltransferase 8A Gene [Source:MGI Symbol;Acc:MGI:109522]
Alleles
There are 6 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa18467 | Essential Splice Site | Available for shipment | Available now |
| sa11773 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa18467
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:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000054510 | Essential Splice Site | None | 542 | None | 7 |
| ENSDART00000124770 | Essential Splice Site | None | 541 | None | 6 |
Genomic Location (Zv9):
Chromosome 1 (position 19374928)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 19900687 |
| GRCz11 | 1 | 20593624 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GGGGGACGTCAGTTTCACACTCATTCGGAMACCGTGTTCACCTGGACAGG[T/G]AAGCGKTCRAGGGCGGCGTTTCCGATWAGCAACAGGTGTTCCGCRCTACT
Long Flanking Sequence:
ATCGTCGTATTTATTGTCTAGATGACGTGAAAGCTGAATTATCCCCTTTTATGATCTTCGGAAGTTGACTCAGAGATCTCTCCCGGTCTTTATATCGTCGTATTTATAGCGCAGCTCTGCCTAAATAGAAGCGCAGCGGTGACGCGCCTTAAATGCAAATATACCTGTGTCGAAAGAGCAAACAACGCACCTGACGCTTCCCATGGGATGCGAGGGAAGGCCGAAGTCTCTCTTTAGTTCTGGCGTGCACTCTGCCTCGGCTCGACCACTCCCTGCACTGACTGTGAATTGAGTTTTCGCAAATCCCGCCCTCCCCGGAGTTCTGACACACAACGCCCCATCTCATAGCCATTGGAAAAACCACCTCGCCTGTTGTGGCAAGCGGGTAGTTTTAACCGGCAAACACCATTTGTGGATATATGTAAAAGTGTCAGAGGCTCGGGAGAGCGAGGGGGACGTCAGTTTCACACTCATTCGGACACCGTGTTCACCTGGACAGG[T/G]AAGCGGTCAAGGGCGGCGTTTCCGATTAGCAACAGGTGTTCCGCGCTACTGTACATTGAGCGACCGCGCAGAAATTAGCGCTTGCTTTTTAAAGGTAGATTAGACTCTGGTGTGTTTTTCTTATTTTCGTGTTGATATTGTGGAGATGGTGACATTTAAAAGTTACTCGCCCGCTACTGCTCCTTATGACTTAACTTGCTTTAATGATGGGTTCTTGATGATTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAATGATACGAATGAATACCTATCATGTGCTGTATTTAAAGCCTGAACAATGAGTAAGTGAGCGGTTTGGGACCTGATCTAAAGATTTTACCTGCTCACTTTTCCCGGCCCCCTTCATCTATTTTTAACTGGAGAGTGATAGTTTAGCAGGGGGGATGTTGCAGGAAGACTGACATCCAATTCCTGATGATGCTAATGTCAGGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa11773
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 |
|---|---|---|---|---|---|
| ENSDART00000054510 | Nonsense | 318 | 542 | 3 | 7 |
| ENSDART00000124770 | Nonsense | 318 | 541 | 3 | 6 |
Genomic Location (Zv9):
Chromosome 1 (position 19357675)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 19883434 |
| GRCz11 | 1 | 20576371 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTCAGATGACATTGCTCAGAAACTCGCTGGAGCCTTGAGCCGTCTGCCC[C/T]AGAGAGTCATCTGGAGGTACTGCCATTCATTCGTTCTCTCATGTGATCAC
Long Flanking Sequence:
TCACTTGTGTGGTATTGAAAAGTCAAAAGTTGTACCTTGAAGCCTTGGACAAACTAGGTTAGAAATTGCTAGTGAACATGTATAATATGTTGCATTTCAGCCATTTTGTTGTATGTTTACAAGAACACAAGTTTATAAAACAGGCGTTTAGTAATGTGTCTGTAACAAACTTCCTGTTCTGTTCGAAGTTCTTTGTACATATATGGTCATAAAAAATACTGAATGATAATGCTTCTACTTTATTCTTCCCTTTTTTTTTCAAGCTGAGTAAAAAAATAATAATTCAGATGCTACTTCATCCACCATGAACCATACAATCCTATAAATTGTTTCATTGATAGTCAGACTGCGCTGTAATTGATCTGTGTTTACAGGAGTTTGAAACCTGGGTGAAGGACACAGATGAAGATGGTTTCGTGGTGGTCTCATTTGGTGCAGGAGTGAAGTATTTGTCAGATGACATTGCTCAGAAACTCGCTGGAGCCTTGAGCCGTCTGCCC[C/T]AGAGAGTCATCTGGAGGTACTGCCATTCATTCGTTCTCTCATGTGATCACTGATCCATTTTTCCAGCAGATCAAATCACCTGCGTCTCAGTCCATTATGGTTTTTTCTATCACAGAGTATCCAATGGCAACTGGCCTGTTGTGGCAGGTGGCTTAAAAGCCATTCATTCTAAATTATCTGATCGTTTGCTAGACTTTCCAGTGGTTTCTAAATGCAAAATGACACTAATTTGTCTTGAACTATAGCATTTCCATACATCATGTATAGATACACTTTATACACTATACTAGGAGTGTTCGATCATGTGATAAATCTGTGTGGAGACACTATTAACAATAAAACTCAATACATATTTTAATTGTTCAGGGAGGAAGTATACTGCATCCTTTGAGATGGTAGACACTTCAAGAGCCATGGGTCCCTCTTTATATTAGGATTGTTTTACTCATACAATTTTGTATATATATATTACTTATTCTATACCTATAGTGTTCATGTTT
Associated Phenotype:
Not determined