ZMP
zgc:113333
Ensembl ID:
ZFIN ID:
Description:
hexosaminidase D [Source:RefSeq peptide;Acc:NP_001013509]
Human Orthologue:
HEXDC
Human Description:
hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing [Source:HGNC Symbol;Acc:2
Mouse Orthologue:
Hexdc
Mouse Description:
hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing Gene [Source:MGI Symbol;A
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa11180 | Nonsense | Available for shipment | Available now |
sa19979 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa11180
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 |
---|---|---|---|---|---|
ENSDART00000055766 | Nonsense | 168 | 471 | 5 | 11 |
ENSDART00000130029 | Nonsense | 168 | 573 | 4 | 13 |
ENSDART00000145277 | Nonsense | 168 | 254 | 6 | 8 |
ENSDART00000145539 | None | None | 36 | None | 4 |
Genomic Location (Zv9):
Chromosome 3 (position 18572970)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 3 | 18601332 |
GRCz11 | 3 | 18751072 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTTCACAAAAAGTCCGGAAGATRTAGAGGAAATTAAGTCTCTGGCTAAA[C/T]GACAYAATCTGGAACTGATACCTTTGGTGCAGGTGTTTGGACACATGGAG
Long Flanking Sequence:
CACAAAAAAATTCAACTAAATTTTTCCATTTATTTATCTTCCCTCGATTTTTCTCCTTTTTAAATTTGTATTTAATATTGTTCTATAACATAAATTTGGGTGCACAATTTTTTGATCTATTAACAGCTATCTAACAGTTATTGGCAAGTTATTAAATATAATATATTGTAGAGCTTCCTATTAAAAATGTGGATTAAAAAATAAATTTGTAAGGGGTGTACTTATATGCCGAGGAGCAATGTATATCAAACTTCTAAAATGTAAAAAAAAAAAATATTGCTAATACATTTGAAAGTTTAAGTAAATATCTATTGAAGCTTCCTCTGTAACTCTAAGCCTTTCAATTCATGGATAAAATGTTGCTAAAATATATTTAGAGATCATAAGTTGACAGTTTCTATGCATGTATTTTTATGAATGCAGTATATTTATCACTTGTTTGTCTTTTATTGTTCACAAAAAGTCCGGAAGATATAGAGGAAATTAAGTCTCTGGCTAAA[C/T]GACACAATCTGGAACTGATACCTTTGGTGCAGGTGTTTGGACACATGGAGGCAAGTAGAGATTTTATCAACAAAAAATCTCAAATATGTGCATACTACATACTTCAGTGCAGTGCTAAAGAGGCATTTACATTTTGTTTTACAAGTGGATTCTTTACATAATGTCTAGTTCAACCATTTCTGATAAATGTGTGGAGGCAAAAATCATTCAAATGCTGTGGATGCGTTGCAGCTCTGCTTAACCAGGCTTTCTGTTCACATTTCAGTTCGTCTTAAAACATGAAAAGTATTTTAAATTGAGAGAAGTGGAAACGTTTCCCAATAGTCTAAACTCTCTGGCCCAAGGAAGCATGGAACTCGTTCAAAACATGCTAATGCAGGTTATGAAGAAGCACCCAGAAGCACGGTGGTTCCACATTGGTGCCGATGAGGTCTGTGGATTTCTATTCTTTGCAGATCAGAATTATAAAGACATAAATATAACCATAATAATCATTTTAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa19979
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:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000055766 | Essential Splice Site | 325 | 471 | 8 | 11 |
ENSDART00000130029 | Essential Splice Site | 325 | 573 | 7 | 13 |
ENSDART00000145277 | None | None | 254 | None | 8 |
ENSDART00000145539 | None | None | 36 | None | 4 |
Genomic Location (Zv9):
Chromosome 3 (position 18570337)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 3 | 18598699 |
GRCz11 | 3 | 18748439 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCACCCATGATATGGAACTACCATGCAAACTTGAACGTGAAGGACATTGG[T/A]AAGGCCTGGCTCTGTTACTTATACCTTAATAAGGTCAATATGAACAATCT
Long Flanking Sequence:
CGTTAGCATCAGTAGCATTCGAGAGTCTGAGTGCTGCCTCGATTGCGTCCTATTTTAGACACTTGCATTTTTCAATCATTAAAGTTTGGCTAGGTTGTAACATAATTTTTCTGTTAAGTGACAAACACAGAACACTCTGAATTGGATTGTTGCCCAAACATGTATGGCTGTAAAAAACTAATTAAGCTAACGTTATATCGTTAGCAACAGTAGCATTCGAGAGCAGTCTGAGCGTGGCCTCGAGTGCGTCCTATTTTAGACACTTGCATTTTTCAATCATTAAAATTTGGCTAGGTTGTAACATGATTTTTTTGTTGAGCGACAAACACAGAACACACTTTTTAATATCACTTAAAAAACACACACACAACGTCACCATAACTGGAAAGCACATTTTTGACCCTGACATGATTTTTTCCCTTTTCAGAATCAGGTTTGCAAGATCTTGCTTCACCCATGATATGGAACTACCATGCAAACTTGAACGTGAAGGACATTGG[T/A]AAGGCCTGGCTCTGTTACTTATACCTTAATAAGGTCAATATGAACAATCTTACCCAATTACCCATTAGCTTAAAATATCTTCCTTATTTTGAACGGAGTTCTTATACCCATGAGAAAATAAAATTTTGATTTAATAATCTTTTTCTTGTATTTTAATCAAATAAATACAGTCTTTGTAAGCTCTGTGACTAGGTCCGTCATGATATCTAATTTTTGTTGTACAATATATTGCACCAAAATGTATTGCGATAAACAACATTATTGTTATTTTAAAGCAGCTATGATAAATCATCTTTTGTAAGCTGTTTAGACAGAACTGTGTGTAGGTATAGTGTGTCCACAGACATATTTGGGTGGTATAAACACAATAAGTCTTCTTTTTTTTTTTTTTTTCCTGACGTTAAAATAGGATGCAAATTCCTCCCATTTTGAGGCCCACCACAACATGGTGAAGGATAATTATATCAATGAGACAGGACGTCCACAAAGCGACCAGGATT
Associated Phenotype:
Not determined