zgc:113333

Ensembl ID:
ENSDARG00000038242
ZFIN ID:
ZDB-GENE-050320-57
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 Estimate
sa11180 Nonsense Available for shipment Available now
sa19979 Essential Splice Site Available for shipment Available now
sa6881 Essential Splice Site Mutation detected in F1 DNA During 2018

Mutation Details

Allele Name:
sa11180
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
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Mutation:
C > T
Consequence:
Nonsense
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 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 from LGC Genomics)
KASP Sequence:
TGTTCACAAAAAGTCCGGAAGATRTAGAGGAAATTAAGTCTCTGGCTAAA[C/T]GACAYAATCTGGAACTGATACCTTTGGTGCAGGTGTTTGGACACATGGAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19979
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
T > A
Consequence:
Essential Splice Site
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 254 None 8
ENSDART00000145539   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 from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCACCCATGATATGGAACTACCATGCAAACTTGAACGTGAAGGACATTGG[T/A]AAGGCCTGGCTCTGTTACTTATACCTTAATAAGGTCAATATGAACAATCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa6881
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
A > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000055766   None 471 None 11
ENSDART00000130029 Essential Splice Site 508 573 None 13
ENSDART00000145277   None 254 None 8
ENSDART00000145539 Essential Splice Site None 36 None 4
Genomic Location (Zv9):
Chromosome 3 (position 18563530)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 18591892
GRCz11 3 18741632
KASP Assay ID:
554-5021.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AAGYGCATAAACAGAGATGGAGTAAGCTAATATTTCTCCTTTTTTATGTC[A/T]GAATGATGGATGAAWGGGATTCCTTTTTGCTGACTTTTCGGGAAARCATG
Associated Phenotype:
Not determined

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