ZMP
GBE1 (1 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 |
|---|---|---|---|
| sa22590 | Nonsense | Available for shipment | Available now |
| sa42490 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa22590
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 |
|---|---|---|---|---|---|
| ENSDART00000113599 | Nonsense | 279 | 544 | 7 | 12 |
Genomic Location (Zv9):
Chromosome 15 (position 7430151)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 15 | 7513697 |
| GRCz11 | 15 | 7489768 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTCCACAGGATCTGGATTTTCTGGGGATTATAACGAGTACTTTGGCCTG[C/T]AGGTGGATGAGGACTCTCTGGTCTACCTGATGTTGGCGAACCATATTTTA
Long Flanking Sequence:
CCTGCCGCTGTAAATGTCACAGGCGCTTATTGTAGAGCAGGTAGAAAAAAAGTGTTTTCCTGGAAGAGGAGCCGTTCCAAGGGCAGCTTTAATACACAGCGCCGCTGTTACGTAAACTCTCATAAATGAAGAAAATTAACGGAAGAAGCGCGTGATACGAGTTCTTTCAAGCAAGAAATTAATTACACAAGTAGTGCAGCAAAAGGTTATCCTGCCATTTTGCTTTTTTTCATATTAATTTTGTTGCACTGATGCTGCTAATGAATTTGGGTTGGTTTTCAAAGATCACTTTGAATCCGACTCTTGTTTTAATGAAACATGACATTAGACTTTGTGTGTGTTTTGTTTTTTTGCAAGTTGATTTTATCGTAGCTCTTTTTAAAATGAGTTTTTGCATAATTGCTGATTGTTAAAATGTTACAACTTGTGCAATTCTGATTTCACATTCACTTTCCACAGGATCTGGATTTTCTGGGGATTATAACGAGTACTTTGGCCTG[C/T]AGGTGGATGAGGACTCTCTGGTCTACCTGATGTTGGCGAACCATATTTTACACACTCTCTATGAAGACTGCATCACTATCGCTGAGGTGAGATGCGTCGCTTGTTTTCTGTACAGAAGCTGTCAGCACAATGAAACATTGCTGAAATGTTTGCTCAGCAGTTCTGCTCTTATTCTGATGCTTGGAAATGATTGTGAATGCAACGTTATTGTTCCCAGCAGCCTTGGCTTATGCACGAAACTGCTGAAATATGGCTGTTTTCAAACAGGTTTCCTAAGCACTCCCTGTACAGTTTGTTTAGCTTTCTGTGGGACACAGAGTAACATAAAAAGCCAAATAAGTAAGCAATACTGTACATCCACATGATTATTGCTGAATAACACAAAGCTGGGAAGTCTTGTATAATCCTGCAGGGGGTTATGTAGGAGATAATGTATACCTAGGTTGTTGTTATCACAGAATAAAGGCTGACAGGCTTAACAGAAGTCTGATGCAAAGTGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa42490
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000113599 | Nonsense | 321 | 544 | 8 | 12 |
Genomic Location (Zv9):
Chromosome 15 (position 7424874)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 15 | 7508420 |
| GRCz11 | 15 | 7484491 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTTTTTTAAGGATGTGTCCGGGATGCCTACACTTTGCTGTCCAGTCCAA[C/T]AAGGAGGTCTGGGTTTTGACTACCGCCTGGCCATGGCCATTCCAGACAAA
Long Flanking Sequence:
GCACTGTTGAAGGTGAAATATCTTCTTCCCTTTGTCTTCCTATCTTACTTTGAGGAACATTGTTTTTTTAACATTTCAATAAATCGTCTTATGTATTTGTGTGCAAACTTTTTTGATTGTTCTACTGCAATGAGAGTATAGTTCCTATACATATCAGCCTAAAAAACAGCAACTTTTAATTTTCTTTCAGTTTTTGTGCCGAATGTAACTGAAGACTGAAGCTTTAACCAGAAAAATTATTTTAAATCTTTCCAATATTTTAGTGAGATGCTAATGGTCTAACCTGATTCAATGACTTATGCTAAGCTAAGCTAAAAGTGCTCCCGCCAAACACAGAGATTGGCTGAATGGTTTCAAAATGGTGGAACTGAACTGTTTAACTGTTAGGTGACTTATAAAATGAGCGTATTTCCTATATAATTGGAGCTTTCCTTAAATAATTATATTCTTTCTTTTTTAAGGATGTGTCCGGGATGCCTACACTTTGCTGTCCAGTCCAA[C/T]AAGGAGGTCTGGGTTTTGACTACCGCCTGGCCATGGCCATTCCAGACAAATGGATTCAAGTGAGTCTCTAGAAATTCACTGTAACATAAAGTAAGAAATGGCATAAAAGAGAATGATCAGTCAGCTCACTTACACTCAAACTACTGTTCAATAAGTGTAACTGACAACTCACTTGTCTTTGCTCACTTTTCAACAAATTCGCCTTATCATACATATAAGTGTCTCATTCATTGTGCACGTTTCCAAGCAAAATGTGTTAATATGTTTTTTAGAAGGAATTTGATATGTAGATGCAGTATCTACAAGCTGACTAGCAACTGGTGGATCAGATAAATAGGGCGATTTTCAGTTTTTCTAGGCAGATTTATATTAATAATGTCGTGCTCCTGGAAACTAGGATGTGTTCTATTGTTTCGGTCGCTTTTCTTCTTGTATTTTTTTGGTGAGTGTGCATAATTAAAAGTATAATTATGGGCAATTCTTCAATCATTTTTCTTAAT
Associated Phenotype:
Not determined