ZMP
sh3gl2
Ensembl ID:
ZFIN ID:
Description:
endophilin-A1 [Source:RefSeq peptide;Acc:NP_957410]
Human Orthologue:
SH3GL2
Human Description:
SH3-domain GRB2-like 2 [Source:HGNC Symbol;Acc:10831]
Mouse Orthologue:
Sh3gl2
Mouse Description:
SH3-domain GRB2-like 2 Gene [Source:MGI Symbol;Acc:MGI:700009]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa19508 | Nonsense | Available for shipment | Available now |
| sa12612 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa19508
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:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000090611 | Nonsense | 170 | 347 | 6 | 9 |
Genomic Location (Zv9):
Chromosome 1 (position 25715161)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 26055378 |
| GRCz11 | 1 | 26749092 |
KASP Assay ID:
2259-0639.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGACAGCATCACCTGAAGAAGCTGGAGGGGCGACGATTGGACTTTGACTA[T/A]AAGAAGAAAAGGCAAGGAAAAGTCACAGAGGATGAGATCAAACAGGCCCT
Long Flanking Sequence:
CCCCAGTGTCTGTCTACAGCTTCTGCTTTTTGAAACAAAGCATCTGAGTTAATACATCAGTGGCACGACCAAGCACAGTATGTGATCGTGCAACCTTTACCATCACTGAGGAGAAGAAACAGTTGATTAAAGTCAATTTTCTTTATGTGCGCACAAAAGTATTCTTGTAGCTTGAAAATGGGAGCTAAAATCTGCAGGACACCGGCCCTCCAGGAACAAGTTTGGTGACCACTTCTATAAAGGATGAGGGAGCTCTCAGATTTCACCTGAAGTGTCTTAATTTGTATTCAAAAAATTAATAAATATCTCAGGCCGTTTGGAACAACATGAGGGTGAGTTCTGTTAAACTAACGCTTTAATGGAGGCACTGCATTAGAATTAACATTGGTGTGACGGAATGTCACTAGAGGTCAGTAACTGAACAGCAACATTTTCATTTTCCATGTTTCATGACAGCATCACCTGAAGAAGCTGGAGGGGCGACGATTGGACTTTGACTA[T/A]AAGAAGAAAAGGCAAGGAAAAGTCACAGAGGATGAGATCAAACAGGCCCTGGAGAAGTTTGACGACTCCAAGGAGATTGCCGAACAAAGCATGTTTAATCTTCTGGAGAACGATGTAAGATCTGTGACCTGTCCTGTGCCTGCCCTTGCTCACCATCCATTTCATGCTTCTGTAGACTCTGATTGTACTTTATCTGTGCTTTTTGTGTTATATGCTGTATCCAGTGAGTCTTTCTTTCCTCTTATCTCACAGGTTTCACCCCTTTTCCATTGATCACTGCATCTCATCCAATGGCTATGTTTACATGGTCGGCAGTGTGATTGCTGCCAATACTCAAAGTAATGATTAAGATGTTTACATGACACGGGCAAACCTTTTCAGTGCCGTTTACATGATTCCTGCTATTATTAGGATCATTTGTTAAGAGTTATGATGTTTTTGCTTTAAAATAGGCTCCAAGTGCTCCTGGCGTACATGGACCTGTTGGCCAGTCCAAGGGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12612
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 |
|---|---|---|---|---|---|
| ENSDART00000090611 | Nonsense | 211 | 347 | 7 | 9 |
Genomic Location (Zv9):
Chromosome 1 (position 25714192)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 26054409 |
| GRCz11 | 1 | 26748123 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTTCATGTGTTACAGTTAWTAATGTTCTAACTGTGTTTCACCAGATTGAG[C/T]AAGTGAGTCAGCTTTCTGCTCTGGTCCAAGCTCAAGTCAACTACCATAGA
Long Flanking Sequence:
GCGTACATGGACCTGTTGGCCAGTCCAAGGGTACACGGTCTCCCTCTTTTCCTAGAAGCCACACTTCTGGGAAGCTCAGAAATCTGAGATTATGCATATAACATTACATAACATGGGCATCATGTGTTTTATTGGTGATCGGAAATGCCAAGGTGGTATATTTCTGAACATCTAAGAGCATGATGCCAAGAAGTGTGGCTTCTTCTGATCCAGCATGTTTTCGACCCATGCATGAGCGTGTAGTCAGATGAAAAATGCAGTGCTTTACATATTTTACTGTGACTTATGATAACTCCAAACATGAACTTCATCATAACCACAGTATTGTTTACATGAACTCGCTTGCAGTACTTCATGGTACTGTCGTAATTACATTGTGAGGGTGCATGTAAATGTAGCCATTGTTTGCTAGTCTTGAACTTCATATGTGATCATCGAGGCGTTATTTGTGTTCATGTGTTACAGTTAATAATGTTCTAACTGTGTTTCACCAGATTGAG[C/T]AAGTGAGTCAGCTTTCTGCTCTGGTCCAAGCTCAAGTCAACTACCATAGACAGGCGGCAGAGATTCTTCAGCAGCTGTCCAGCAAGATCGAGGACAGGTCTGGATCCTAAAACAAACCATAGAGTTAAAAGTTCTAATCTTTAGTAAACAATTTATAAAGGGATTATTCACCCAAAAATGAAAATGTACTCACCCTCATGGGAGGATAACCGGTTTCAAGGAAAAATCTTTGGAAAATTTTGTTATACCATCTAAAGGTTTGTTTGTTTTTTAACGTGTTATCAAATGCTTGCACCTACATCCAAGCATGCTATGGACCTGAAAACAGTGGCTTATTTATATCCAATGAAAAGAAAGATATCCAAAGATGTCTTTTAAAGTTGTAAAGGAACCTGTGTTTCTAAAACTAATGAAGACAGCAAAAGACAATGATTTACTTTATATAGCTTGACTTGTTTATTGTTTCTTCAAATAAATGTATTGGGTTCAATGGGTGGAAA
Associated Phenotype:
Not determined