ZMP
sh3glb1
Ensembl ID:
ZFIN ID:
Description:
SH3-domain GRB2-like endophilin B1 [Source:UniProtKB/TrEMBL;Acc:B0V151]
Human Orthologue:
SH3GLB1
Human Description:
SH3-domain GRB2-like endophilin B1 [Source:HGNC Symbol;Acc:10833]
Mouse Orthologue:
Sh3glb1
Mouse Description:
SH3-domain GRB2-like B1 (endophilin) Gene [Source:MGI Symbol;Acc:MGI:1859730]
Alleles
There is 1 allele of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa31267 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa31267
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 |
---|---|---|---|---|---|
ENSDART00000045933 | Nonsense | 248 | 360 | 7 | 9 |
The following transcripts of ENSDARG00000010956 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 2 (position 16012040)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 2 | 16522867 |
GRCz11 | 2 | 16191457 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGCTGCGTATTACGCCCAGTGTTACCAGTATACAGTCAATCTGCAGAAA[C/T]AGCTGGGCAGGTTGGCACCCTCATATCTTTATGCATTTTGTTGTGATATC
Long Flanking Sequence:
AACATGCTACCTACTGCGCCACTGCGTTGCCTGAATTAGTCATTTAAATTAATCAGTCAGAATGGGCGTTTTTTATTTAGTTTAATAAATTATTCTTATGAGCCTGTTATGTTGCTAAATAAGTCGAAATGGTCATGAATAATTCTGTTAATAATTGTAATCAATAATTAATATGTGTCAATCAATAGTTAACACTTCAAACCCTCTTTTCAATAAAACCAGTCAATCAATGAACCGATCCAAAGACTGAATTGTTGTCTTGATTCATGACTCCTAATGAATCTTTTACCTTAATGAATTTGTCAGTTAGGATCCAAACACTTTAAATGCTATAGGAACGTAATATTTAGTTGTTTTCGTATGCATGTGGGAAGCACTGATGTATGTTTGATATGTTCTCCTCTGCTCAGGCCCATCACTTGCGGTGTCTGAATGATTTTGTGGACGCTCAGGCTGCGTATTACGCCCAGTGTTACCAGTATACAGTCAATCTGCAGAAA[C/T]AGCTGGGCAGGTTGGCACCCTCATATCTTTATGCATTTTGTTGTGATATCAATGTTTTTTCTGTACTCCAATTCCTCTGTTTTATACTAAATGCATCCGGAATCATCTGTTCTCTCAAACAGTCAAACTGCAATGTAAGCTTTTTTGTAATCTTCAAGAAGCAAACGTACATGGATGTATTCCCACAGTTAAGCCAGCAGTACTAACTCTTACTATATCTCCTCCAGTTTTCCATCCACGTTCTCTAACAACAATCAGCCGTCTGGCAGCTCGTCCGCCAGTGTGTGCGTACCCACAGCACCACCAGCTGCGTCTCTGCCCGCTCCTCCACCCAGCCAGGCTTCACCTGCTCTCAATGAGCTGCGCAGCTCCTCCGGCACCCGAAAGGCCCGTGTGCTGTATGACTATGACGCCGCCAGCAGCACGGAGCTCTCTCTACTGGCAGACGAGGTGCGCCTTCATCAGCCCACATTTCACATTTATGGCATACCTAACGGCAC
Associated Phenotype:
Not determined