ZMP
GBE1 (2 of 2)
Ensembl ID:
Description:
glucan (1,4-alpha-), branching enzyme 1 [Source:HGNC Symbol;Acc:4180]
Human Orthologue:
GBE1
Human Description:
glucan (1,4-alpha-), branching enzyme 1 [Source:HGNC Symbol;Acc:4180]
Mouse Orthologue:
Gbe1
Mouse Description:
glucan (1,4-alpha-), branching enzyme 1 Gene [Source:MGI Symbol;Acc:MGI:1921435]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa38798 | Splice Site, Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa38798
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:
A > T
Consequence:
Splice Site, Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000064741 | Splice Site, Nonsense | 31 | 687 | 1 | 16 |
Genomic Location (Zv9):
Chromosome 10 (position 24480169)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 10 | 24079521 |
| GRCz11 | 10 | 24048973 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCTACAGACAGATCCGTACATTGCACATTATGAGGGAGAGCTGCGTAGA[A/T]GGTAAACGCCCTTTTGATAAACTTTTAATGAATTCCACTTGCCTGATTAG
Long Flanking Sequence:
CTTCTGATAACGATTTTGTTTTACTTCATTTAACAATCGCTGGACAGTTACACTAATACATAATAGGTTACAATCTAACTTAAAAGCTCATCAAAATTAAGAATATTTTAATTCTAAAACTTAAAACACAATGATAGAATGTTTTTGAACGACAGATAGTGATATCAATATCAGAATGTATTTGAGACTACTAAAAATGCTGAGAGACAACTAAGGCCATGTTTGCTGCCAGTGAAGAAATGTGTTTTATATGAAAGGAGGCCTGTTCCGCTGACTGGATTGCGCAACAGGCCAATGGATTGGTGGCTCCCCGGACTCGCTCTCCACCTCCCTTACGTTATAACTACTAGAGCCCCTTGAGCAAGAGATGCCAGTATATCTCTCATATTAAAATTCAGAGAGCCACAGCAATGGATTCAAGCACTGACGAGACTTTAAATCTCACCGCGTTTCTACAGACAGATCCGTACATTGCACATTATGAGGGAGAGCTGCGTAGA[A/T]GGTAAACGCCCTTTTGATAAACTTTTAATGAATTCCACTTGCCTGATTAGGTCGATTTATTCGTTGTATGCACATGGTTCTAGTGGGTTTTCCTCAAAATTATAAATTAAACTATAATCCGGATGTGTTGTTTTCTTACAAGCGTTGTTCATCATCGCGTCACTCTAGCGCGCGAGTCTTTGCTGCAGCAGTCCAATCAGAAATTCGCACGTGCTGTGCTGCACCTTGCATGCTTATTAAAGAAATATGAGTTGTTTGTATTTATGTACAATCGCTTCCACAGCTTAGAAATCTCTCAAAATGCCATTTATTATAATGCCAACATATATATGTAATTTTATAAAACATTAGTAATTTAAAGAAAATAAATATATCTTTCTAACCACCGGGTGTCGCTATTACATGCCTTCAATTAGGCAGCACTTCTTGTTATGAAATAAAACTAACCGACCAAACTGAAGGAAACATAATTGATAATCACATTTTGGCGAGACATGGCG
Associated Phenotype:
Not determined