ZMP
Q1MT48_DANRE
Ensembl ID:
Description:
Novel protein similar to vertebrate transducin-like enhancer family (E(Sp1) homolog Drosophila) [Sou
Human Orthologues:
AC010547.1, AES, TLE2, TLE6
Human Descriptions:
amino-terminal enhancer of split [Source:HGNC Symbol;Acc:307]
transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) [Source:HGNC Symbol;Acc:11838]
transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) [Source:HGNC Symbol;Acc:30788]
transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) [Source:HGNC Symbol;Acc:11838]
transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) [Source:HGNC Symbol;Acc:30788]
Mouse Orthologues:
Aes, Tle2, Tle6
Mouse Descriptions:
amino-terminal enhancer of split Gene [Source:MGI Symbol;Acc:MGI:95806]
transducin-like enhancer of split 2, homolog of Drosophila E(spl) Gene [Source:MGI Symbol;Acc:MGI:10
transducin-like enhancer of split 6, homolog of Drosophila E(spl) Gene [Source:MGI Symbol;Acc:MGI:21
transducin-like enhancer of split 2, homolog of Drosophila E(spl) Gene [Source:MGI Symbol;Acc:MGI:10
transducin-like enhancer of split 6, homolog of Drosophila E(spl) Gene [Source:MGI Symbol;Acc:MGI:21
Alleles
There are 5 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa43831 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa24161 | Nonsense | Available for shipment | Available now |
sa10818 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa43831
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 |
---|---|---|---|---|---|
ENSDART00000105561 | Nonsense | 57 | 774 | 3 | 22 |
Genomic Location (Zv9):
Chromosome 22 (position 22057800)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 22 | 21711048 |
GRCz11 | 22 | 21736026 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACAGTCTCAAGTTGGAGTGTGAGAAGTTGGCCAGTGAGAAAACTGAGATG[C/T]AGCGCCACTATATCATGGTGAGTCTGTTCAGCCCTCATAACGTCAGATCC
Long Flanking Sequence:
GAATTCCTTCGTTTTTACTTATTTAGGTGGATCAGCTTATGCTGATTACATTCAATGAATTTCTATGTTAAGATTATTTCAGGTTAATTGGTTTATTCGGCTTTTGGATTATTTTAAGTGTATGCTTTTGTTTTGATCCCTGTAAGTGGTCTGAATGTTCATTTGTTTGAATTGATTATACCTTATTTAGATTCATTGAAGTGTGTTTGATCGTTCTGATGTGTTTGTAAATCAGATTGTTTTGGTCTGAAGGGCATTTATTAGTTTTGATTTGTTTATTAAAGTGGTTCGAATTCACTAAAAAGTGAAGTGAAACAGATCTTTAAATGATTATTATTTTTTTGATACATTTTTATTAAATTAGTTTTTTTAATTCAAGCAAACAGTCTTCATTGTGTCATCTCAGACTAGGTTTTTCATTCATTTATTTAATTTTTTCTCATGCTTTTCACAGTCTCAAGTTGGAGTGTGAGAAGTTGGCCAGTGAGAAAACTGAGATG[C/T]AGCGCCACTATATCATGGTGAGTCTGTTCAGCCCTCATAACGTCAGATCCGCTCTAGTAAACAGCATAAAAGCCGTCTGTTTTTAAAAAGAGAGATTTCATGTTACAGGGTGTTTGGTTAACCTGATGACATGACAGCGGGATTGCGATAGGGGTTTGGGGTAGAAGAAAGGGTGATATGCCAGATCCCGAAAGAAAAGGTGGATGGAAAGCAAAAGAGCGCCTCTAAGATCGCAAGCACAGACATGTAAATAATGCGAGGGAACAGTGATTCAGTGCTTGCAGAAAGCAGATAACCCAGAAGGCTATATTTAGCCCACTAGTCCTGCCATGTATACCCAGGCTTGTTTCAACAGTTTCATGCGTTTATAGTTTACCACATTTTTTTCTCTCTCCGCTCTTTGATGACTAAACAGAGGACGGCGTGTTCCTCTCCTCTCTCTTTAGTGAGTGATTTATTCGTTGATGGGCATGAAATAGTTTTCAGAGCTCATTTGCGAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa24161
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 |
---|---|---|---|---|---|
ENSDART00000105561 | Nonsense | 77 | 774 | 4 | 22 |
Genomic Location (Zv9):
Chromosome 22 (position 22039648)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 22 | 21692896 |
GRCz11 | 22 | 21717874 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTCACAGTACTACGAGATGTCCTACGGGCTCAACATTGAGATGCACAAA[C/T]AGGTAAGACAGTCCTGTGGGGCGAATTTAGCAAACTGTTTTGCCTGTGGT
Long Flanking Sequence:
AGAGAAGAGGTCAGGCACACACACATCACGGATGGGAAATAGAGTTTACAGAATAATAGAGGAGAAGGGCAGGAGAGAGGAGGATTAAAAAGGAAGGTCGGTAACGAGGGAGCCGATCAAGAAAGACAGAGATAAGGGGAGAGAAGAGGAAAAAAAGGATTTTTGAAAATCGAGCTATACACAGAGCAGTTACCGAGTGTGTAAGCGTGACAGACAGACGGAGAGAGACACGGAATAAGCAAGCAGTTGTGTCAGGTTTCATCTTCATCATTGGCGTTGCTGCTCATCTGCCTGCTGAAACAGAAACACACACGCTGATGCACTCAAATCCTCTGTCTTCCTGTAGTTTCAATGAGTCGTTAGTGTCAGGCCGCTGAGGCTTTAATTTGATTGATGATGATTCACCGCTGTTTAATTCATCATTGTGCTGATTGATGCTCTCGCTTGTGTTTTCACAGTACTACGAGATGTCCTACGGGCTCAACATTGAGATGCACAAA[C/T]AGGTAAGACAGTCCTGTGGGGCGAATTTAGCAAACTGTTTTGCCTGTGGTATTTTTGTTAATGCTAAACATCGTCTCATTCTCTGTTCAAACTGCACACAAGTACGATCCAGTTTTTAAATCAGATCATCTGCCATTCAGTGATCTGACTGTTCACGTTTGTTACATATATCTATGTGGATTGGATCTGGATTCTAAACATCTTATTTCATGCAGTCTTCACACTTCACAAGTTCACACTTGTAAAATTTTTTGATATGGTTTGGATCCAGATTACAGATGTCTGATTTCGTGTATTCTGACTGTTCACATTTGTAACATATATGAATATTGTTTGGATTCTGATTATTTACATCTAATGCCATGCGATCTGACTGTTCACATTTGTTACATATATGAATTTGGTTTGGGTCTGAATTATAAACATCGGATTCCATGCAGTCTTACCGTTCACACTTGTTATATTTTTATATGGTTTGGATCCAGATTACAGATGTCTGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa10818
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 |
---|---|---|---|---|---|
ENSDART00000105561 | Nonsense | 109 | 774 | 6 | 22 |
Genomic Location (Zv9):
Chromosome 22 (position 22019611)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 22 | 21672859 |
GRCz11 | 22 | 21697837 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTTTTGTGTGTGTTTGTAGCATCAACAGCAGGTTGTTCAGGCGGTGGAG[C/T]GAGCTAAACARGTGACCATGGCAGAGCTCAACGCCATCATAGGGGTGAGT
Long Flanking Sequence:
ACGTTTGTAAATAACAAATCTGTTTACCGATCGTTACTTTCATAAAGTCTGTTTGTGAATTTGACCTTTTATATAATGTATAGTGATACAGCTCCCATGCGAGGATACCCAAGTTCCAATAAAGTGTCTGGAATGGATCTTCTTTTCAAATGAGGAGGATTTATTTGGGCAGATGAGCAATAAAAGATCAGGCGGAACTGTATTGATCAGGAGGTCACCTTTAGCATTAGCCTGAGTTAGTATCTGCTGACGGGGAAGGACAGAGTGATATGTCTGTCAATACTGACTGTGTGTGTGCGCGCGTGTTTGTGTATGGTGAGAGACTGGATAATTAAAGGATAAATTAAAGTTTTGTGAGCACTGACCTCATTATAAATGTACTTTATTTGGCTGTGTTTGAGTTTGTTTACACCAGTTTTGCATTTTGTGTCTCTTTCTTATCTCTGTGTGTGTTTTGTGTGTGTTTGTAGCATCAACAGCAGGTTGTTCAGGCGGTGGAG[C/T]GAGCTAAACAAGTGACCATGGCAGAGCTCAACGCCATCATAGGGGTGAGTGACCTCTGACCTCTCATACTAATGAATGGATGGATGGATGGAAGGATGGAAAATTTGACAGATGGATGGACAGATAGACAATTTCATGCATTGACAGAGGGATAAAAGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGAATGATGGACAATTTGTCAGATGGATGGACAGATAGACAATTTCATGCATGGACAGAGGGATGGATGGATGGATGGATAGACAGATAGGTACATGGTTATATAGATGGATAGATGGACAGATAGATACATAGGTGAATGGTTGTATGGATGCATGGAAGGATGGAAAATTTGACGGATGGATGGATGGATGGATGGATGGATGGATGGAAAATTTGACAGATGGATGGATGGATGGATGGATGATGGATAGACAATTTGTCAGATGGATGGACAGATAGACAATTT
Associated Phenotype:
Not determined