ZMP
zgc:110815
Ensembl ID:
ZFIN ID:
Description:
lysosomal alpha-mannosidase [Source:RefSeq peptide;Acc:NP_001014354]
Human Orthologue:
MAN2B1
Human Description:
mannosidase, alpha, class 2B, member 1 [Source:HGNC Symbol;Acc:6826]
Mouse Orthologue:
Man2b1
Mouse Description:
mannosidase 2, alpha B1 Gene [Source:MGI Symbol;Acc:MGI:107286]
Alleles
There are 5 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa31840 | Essential Splice Site | Available for shipment | Available now |
| sa12135 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa31840
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 |
|---|---|---|---|---|---|
| ENSDART00000004780 | Essential Splice Site | 69 | 982 | 3 | 22 |
| ENSDART00000141062 | Essential Splice Site | 69 | 259 | 3 | 6 |
Genomic Location (Zv9):
Chromosome 11 (position 32100177)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 11 | 31012042 |
| GRCz11 | 11 | 31275102 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAAGCTCCAGTTTTTGATTCCAGTCATTGAGTTTTTTTTTTTTTTTCCTC[A/T]GACCGAAATAACATCCAGCATGCAGGTGTTCAGTATATTCTGGACTCAGT
Long Flanking Sequence:
ATATGCTGTTTAGTTCTCATTAAAGTAAAGAGGAAATGATTGCAGAATGAGGAAGCAAGAATATTAGGTAAATTACTGTTGTGGTAATCTCTCTACTGATATTGATCTGGTTGTGTTTATGCAGTCATGTCCAGCCACAAAGCCATCCATGCTGAACGTCCATCTGGTTCCACACACACATGATGATGTCGGCTGGCTCAAGACTGTGGATCAGTACTTTTACGGAGGTGAAGTTCTGTTTGTTTTTGAGTTGGACATGTTTACTGTTTATTACTTGCATTTATATGACTGTAGATCACATTGTTTGCGTGACTGACCATAAGCGTTACATGCTGCTTGTCATATGATATTGGCAATGCTTTGTAATGGTAAAACTTAATGTTTAACCTGACACCATACAAAACAATATTGAAAGTTGTGTTAGGCTTGTGCATGCATATAAATAAACCACAAGCTCCAGTTTTTGATTCCAGTCATTGAGTTTTTTTTTTTTTTTCCTC[A/T]GACCGAAATAACATCCAGCATGCAGGTGTTCAGTATATTCTGGACTCAGTGATCGATCAGCTACAGAAGGATCCAGCTCGACGCTTTATCTATGTTGAGACGGCCTTCTTTTACCGCTGGTGGAGACAGCAGAACCAGAACACACGCCGCATTGTGACCCAGCTGGTCAATGAGGGTGAGGAGGGGTTTTGTTTTGCAGAACATATAGAAAATACAGTATATTGAGTGTAGTCATGTTAAAGCAAAAACAATTATACAGTACAATACTTCCCACATTTTCAGATGTCTTGAATGATATAAAGCAGGGGTCACCAATCTCGGTCCTGGAGAATCCATCGTTATACACTGACTTGCTTAATTGCCCTAACTTGCCTAGATATCCTAATTAACCTTGTTAAGCCTTAAAATGTCACTTTAAGCTAAATACTAGTATACTGAAAAATATCTAGTCAAATATTATTTACTGTCATCATAGAAAAAATAAAAGAGTCAGTTATTAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12135
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 |
|---|---|---|---|---|---|
| ENSDART00000004780 | Essential Splice Site | 236 | 982 | 5 | 22 |
| ENSDART00000141062 | Essential Splice Site | 236 | 259 | 5 | 6 |
Genomic Location (Zv9):
Chromosome 11 (position 32098261)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 11 | 31010126 |
| GRCz11 | 11 | 31273186 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGGAGGGCCAGTGAGAGCCTGACTCCACCTATWGCCGATCTCTTCACAGG[T/A]ACTTTTATGCAAACCTGCAKTTTCTTGAGCTRATGCRTAATCTAATTTCA
Long Flanking Sequence:
TAATATATGATTGCTATTGTTAATACTTAATCCCTCTAAACACATTAAAATAAATATTTACTTCTGTGAGATTCCTTCTTTCTTTATAGGTCGTCTTGAGTTCATAAATGGTGGCTGGTGCATGAGCGATGAGGCGACCACACACTACAGCGCTGTCATTGATCAGATGACTCTGGGGCTGCGATTCCTCAATGACACTTTCGGCGAGTGTGGACGTCCCCGGGTGGCTTGGCACATTGACCCCTTCGGACACGCCAGAGAACACGCCTCCATCTTTGCTCAGGTAGCCATGGCATGTTATCTGGCATCATGAATTGTATTTTAATATCTAAAGTTGCTGATGGCTCTGCTCTGATTTGTTTATAGATGGGCTATGACGGCTTCTTCTTTGGCCGCTTGGACTACCAGGACAAGGACCGCAGGATGAAGACCAAAGAGATGGAAATGCTCTGGAGGGCCAGTGAGAGCCTGACTCCACCTATTGCCGATCTCTTCACAGG[T/A]ACTTTTATGCAAACCTGCATTTTCTTGAGCTAATGCGTAATCTAATTTCAGTTTTTTTGATGATGTAGTAACACTTCTATCATTTTACATTTCATACATGCACATTGTAAGGATTTCTGAAGGATTATGTAATGTTTTACAATATTGTTGCTACATTTATAACATATGTTTTACAGCTGTGGAAAATTTAAGAGAGCACATAAATGCCCAGCTTTTCTGGATTTACACTGTAAAAGTCTTGCAGCTTAATTAAATTAAACTTTCTATTCATCTCAACTTACATCAATTAAACAGACTAAAAATATAACTTTGTTATATTTATTTAAATAAATATTTACCTCTATGCGATTACTTCTTTCTTCATAGGTCATCTTGAGTTCATAAATGGGGGCTGGTGCATGAGCGATGAGGCGACCACACACTACAGCGCTGTTATATAACTTTGTTATATTTTTTAAGTTTTATAAACCTTGTATAATTTAGAAACATTAGCTAAAACC
Associated Phenotype:
Not determined