ZMP
eps8l3
Ensembl ID:
ZFIN ID:
Description:
EPS8-like 3 [Source:RefSeq peptide;Acc:NP_956655]
Human Orthologue:
EPS8L3
Human Description:
EPS8-like 3 [Source:HGNC Symbol;Acc:21297]
Mouse Orthologue:
Eps8l3
Mouse Description:
EPS8-like 3 Gene [Source:MGI Symbol;Acc:MGI:2139743]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa11186 | Nonsense | Available for shipment | Available now |
sa14949 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa11186
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 |
---|---|---|---|---|---|
ENSDART00000099512 | Nonsense | 20 | 325 | 2 | 10 |
ENSDART00000137242 | Nonsense | 20 | 311 | 2 | 10 |
ENSDART00000139682 | Nonsense | 20 | 628 | 3 | 20 |
The following transcripts of ENSDARG00000005704 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 8 (position 26179341)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 25307259 |
GRCz11 | 8 | 25326398 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTGTRTTGTGATTKGTATATTATAGAGGCTTYTCACCTGAGCCATCATCT[C/T]AGGGCTCTGGSATGTCTCKTCCYAGTGCTAAATCCATCTACAGTAAGTRC
Long Flanking Sequence:
TAGAGTGAACTGGGCATAGGGTCGAGGTTGGGCCAGTAGAATAGATTGTTTTCTTTTATTTGGTGACTAAATGCTTCTCACCATTTTCTGAAAGATCAGTGTTGTCAAACCACTACTGTTGAACACAGGACTAGCAGTCAGCTTAGCATCACATACAGAACTTAATCTGCTGTATTTCTGAATGGTTTTATTTGTTCAAACATTTTGTGTCCCATTAATTGTCTGTAATTTTGCATATATTCTTGTAAATATTTATTGTTCTTTCTACATACATATTTTGCACTTATTATGACTATCTTGGTAAATAAACTCACTTTATTGCATTTAGTTAATCATGGTATTTTGTCCCTCACTTATTGATCTTGTGTGTTTGCTTATGTGTTTCACCCAAAATTAATGTTACTCTCCTACCTCTTGACTCAACATCTTTAAAATTGAAACAAAGACATATTGTGTTGTGATTGGTATATTATAGAGGCTTCTCACCTGAGCCATCATCT[C/T]AGGGCTCTGGCATGTCTCGTCCCAGTGCTAAATCCATCTACAGTAAGTACAAACCCATTAAAAACATATCCTAAAAAAATAAAATACCATGATTTTAACTTGACTTTGATGCTTTAGTGCAAAGGAAGGAGTATGCAGAATCGATGAGCAGACAAGACAGCTTTCAGTACAGAGTGGAGGTAAAAATGTTATTTAATTTTAACATAACATATTTATATGTAATTATACATAAAATAACTACTTTCTAATATCTCATTTCTTTTGTATTTGCCATGTTGACAGTTCATAATATTTTACTAATATTTTATTTATCAGTATATTGAAATGCAATTTGAAGGTGTACCTAGTTTAATTAGGTTAATTGGGCAAGTCAGTGGCCAACAGTAGTTTGTTCAGAAGCCAAAATCTGAAGGTGGCTATAACTATATTGACAATAGCAATTTATTTATTGCTATACATTTACTTTTTTACATACACTTTAGAAGAAAAATATAACAGAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14949
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:
A > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000099512 | Essential Splice Site | 55 | 325 | 4 | 10 |
ENSDART00000137242 | Essential Splice Site | 55 | 311 | 4 | 10 |
ENSDART00000139682 | Essential Splice Site | 55 | 628 | 5 | 20 |
The following transcripts of ENSDARG00000005704 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 8 (position 26176931)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 25304849 |
GRCz11 | 8 | 25323988 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
NNNNNNAAGCGAGAAAAAAGTGACTGGAAATTTTCTTCTGCCTCTGTTCTCC[A/G]GCATCTGTTCACCTGTGCACTGGATGGCAGAGAGGTCAGCAGCATTGATG
Long Flanking Sequence:
TGCTGGTAGATGAACCGTTGCCCCAGTCTAAGGTTAAGAGTACTCTGAAGCAGGTTTTCATTCAGGATGTCTCTGTACATTGCTGCATTCATCTTTCCCTCTATCCTGAATAGTCTTCCAGTTCCTGCTGCTGAAAAACATCCCCACAGCATGATGCTGCCACCACCATGCTTCAATTTAGGGATGGTATTAGCCTGGTGATGAGCTGTGCCTGTTTTTTTCCAAATGTAAAGCCTGACATTCACTTCAAAGAGTTCAATTTTAGTCTCATCAGATCAGAGAATTTTGTTTCTTATGGGCTAAGAGTCCTTCAGATGCCTTTTGGCAAATTCCAAGTGGGGAGTGCCTTTCGTCTGGCCACTCTACCATACAGGCCTGATTGGTGGATTGCTGCACAGATGGTTTTCCTTCTGTAAGGTTCTCCTCTCTCCACAGAAGAGAGAATATATATATAAAGCGAGAAAAAAGTGACTGGAAATTTTCTTCTGCCTCTGTTCTCC[A/G]GCATCTGTTCACCTGTGCACTGGATGGCAGAGAGGTCAGCAGCATTGATGACTGTGTCAACAGGCTGAAGATTCTGGACAGTAAAGGAAAAATTTGGGGTCAAGACATGATCATACAGATCCAGGCCAACCACCTGCAACTGTGTGACATTGAGACCAAGGTCAGTGACAAACTTTATGCTTAAAAACATTTATATTCTTAGCATGCTTGCTTTCATGGTGTTTCTCTTTAGACTTAGCCTCTGCTGATGCATTGTGGGATTTCTCCTGTATTCATTACACTTTAATACACATTATGACTTCTTTTTTTTTTTTTTTTTAAAGAATTGTATGTGCTTGTAAAATGTACTTTTATAATGTTTTATTTAAAATCATATTGATAGAGTAGACTAACAATAAACTCTTTCTCTGTTGCAGGAGGTTTTAGAGTCTGTTCATTTGAACAGCATTAGGAAGGCCAAAGCTGTTCTGGACAGTTGCGTTTATGATTCTCTCCTCATA
Associated Phenotype:
Not determined