ZMP
EIF2C4
Ensembl ID:
Description:
eukaryotic translation initiation factor 2C, 4 [Source:HGNC Symbol;Acc:18424]
Human Orthologue:
EIF2C4
Human Description:
eukaryotic translation initiation factor 2C, 4 [Source:HGNC Symbol;Acc:18424]
Mouse Orthologue:
Eif2c4
Mouse Description:
eukaryotic translation initiation factor 2C, 4 Gene [Source:MGI Symbol;Acc:MGI:1924100]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa29273 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa23604 | Nonsense | Available for shipment | Available now |
sa13019 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa29273
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:
A > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000129463 | Essential Splice Site | 7 | 874 | 2 | 18 |
Genomic Location (Zv9):
Chromosome 19 (position 49546903)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz11 | 19 | 47825947 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTTCTGAACTTCCCCTTTGTCTTTAAACTAATATGTTGTTTCTTCTTCC[A/C]GGCCCGCCTGCCCCTACCTCCCTCTTCCAGCCACCGCGCCGGCCCGGCTT
Long Flanking Sequence:
GTGAAAAATGATCAGTTCTAAAAATAAATTGCCTAATAAATCTTCATTATTTGACTCTGTCATGAACACCACCACCAATAAAACATTGTTTAAATATTAATTCACTGTAATGCTAATGATATCAATATTGAGTGTTTGTTATCAGGATTATATCTAATGTCAGTGTATGGTTCAAGTTAAATCTCCTATTCTATACATTATTAAAGACTCACGAAACACCAAAACACATTTTTTGAGCTGTTGACAGTCGTATATGTGTCAGACACTGCTAAAAGCACTATTAGGACACATATATTTTACTAAAAAGTGAAAACCGGTAGCCATTGACTTTCATAGTATCTTTCTTTTCTCTAATATGGATGTCAATGGTTAGAGGTTTCCAACACCTTCAAAATAACTACAGTCAACTACTAAAAAAAGACACTCATGATGGTTTTTAACCAATGTAAATTTTCTGAACTTCCCCTTTGTCTTTAAACTAATATGTTGTTTCTTCTTCC[A/C]GGCCCGCCTGCCCCTACCTCCCTCTTCCAGCCACCGCGCCGGCCCGGCTTGGGTACGGTGGGGAAGCCGATTCGCCTGCTGGCCAATCACTTCCAGGTGCAGATCCCCAAGATCGACGTCTACCATTATGACATCGACATCAAACCTGAAAAACGGCCCCGCAGGGTCAACAGGTGAGAACAAGCTAATAAGCAATTCATATGAAAGGGATAGTTCAGCAATATTAAAAAAATTCTGTCCTTTTTTTTCTTTTATTAAATATTATATTATTAAATAATAAATAAATAAATTATATATATATATATATTATACATATATATTATACATATATATATATATATATATATATATATATATATATATATATATATATATACTATATAGGTATTATACATATATATTATACATATATATTATATATATATATATATNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23604
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 |
---|---|---|---|---|---|
ENSDART00000129463 | Nonsense | 799 | 874 | 17 | 18 |
Genomic Location (Zv9):
Chromosome 19 (position 49524164)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 48124876 |
GRCz11 | 19 | 47802995 |
KASP Assay ID:
2261-3755.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGTGGGACGACAACTGTTTCACCGCTGACGAGCTCCAGCTTTTGACCTA[T/A]CAGCTCTGCCACACTTATGTGCGCTGCACCCGCTCCGTCTCCATCCCCGC
Long Flanking Sequence:
TTATTAAAATCCAAATTCATGCTTATGAACATTAGTTAATGCACCGTGAGTTAACATGAACTAACAATACTAGTTAATGTATTGTTCATGTTAGTAAATGCATTAAACTAATGCAACCTTATTGTAGTTAATGCGTTTACTAATATGAACAAACATTGTTAATAAAAATACAGTGGTTCATGTTAACTCAAGGTTTAACTAATGTTATCGAGCATGAATTTGTATGTTAATAATGCAATAGTAAATGTTGAATTAGCATTAATAAATGCTGTACAAGTATTGTTCATACTTGTTTATGTGTGACCAAAATATCGTTATTGCAACACTAAAATCATATTGCAATATTGTGTATTGCATATGTTCCCAGTATATAGTGGAACTTTTTTCCACACTCATTTATTTCCCCGTGTTCTCCCACAGGGCACCAGCCGTCCCTCTCACTATCACGTGTTGTGGGACGACAACTGTTTCACCGCTGACGAGCTCCAGCTTTTGACCTA[T/A]CAGCTCTGCCACACTTATGTGCGCTGCACCCGCTCCGTCTCCATCCCCGCGCCAGCTTACTATGCCCGGCTAGTGGCCTTCCGTGCACGCTATCATTTAGTGGACAAAGACCATGACAGGTTAGTAACACTTCAGTATTAAGAGCCTGTGTAAAGTGACCATAAATACGTGTTGAGCTCGTCACACAAAAGAAAATGTGGTGTTAAATGGAGCGTTCATCCTAAAATTATCATTCTAAACCTTTTGAGTTTATTTCTTCTGTTGAACACAAACGAAGGTATGTTAGAAAAACCTGTCACCATTGACTTTCATGGTAGAAGATTAAATGCTATGGAAGTCAATGGTTACAGGTTTTCAGCTTTCTTCAAAATGTCAGCTTTTGTGTTTACCAAAAACAAGAAAAGATATTTTGAAAAATGTTGAAAACCGGTAACCATTGACTTCTATAGTAGAAAATCAAATGCTATGGAAGTCAGTAGTTTGAAGTTTTCAGCATTTTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa13019
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 |
---|---|---|---|---|---|
ENSDART00000129463 | Nonsense | 805 | 874 | 17 | 18 |
Genomic Location (Zv9):
Chromosome 19 (position 49524146)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 48124894 |
GRCz11 | 19 | 47802977 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTCACCGCTGACGAGCTCCAGCTTTTGACCTAYCAGCTCTGCCACACTTA[T/A]GTGCGCTGCACCCGCTCCGTCTCCATCCCCGCSCCAGCTTACTAYGCCCG
Long Flanking Sequence:
ATGCTTATGAACATTAGTTAATGCACCGTGAGTTAACATGAACTAACAATACTAGTTAATGTATTGTTCATGTTAGTAAATGCATTAAACTAATGCAACCTTATTGTAGTTAATGCGTTTACTAATATGAACAAACATTGTTAATAAAAATACAGTGGTTCATGTTAACTCAAGGTTTAACTAATGTTATCGAGCATGAATTTGTATGTTAATAATGCAATAGTAAATGTTGAATTAGCATTAATAAATGCTGTACAAGTATTGTTCATACTTGTTTATGTGTGACCAAAATATCGTTATTGCAACACTAAAATCATATTGCAATATTGTGTATTGCATATGTTCCCAGTATATAGTGGAACTTTTTTCCACACTCATTTATTTCCCCGTGTTCTCCCACAGGGCACCAGCCGTCCCTCTCACTATCACGTGTTGTGGGACGACAACTGTTTCACCGCTGACGAGCTCCAGCTTTTGACCTATCAGCTCTGCCACACTTA[T/A]GTGCGCTGCACCCGCTCCGTCTCCATCCCCGCGCCAGCTTACTATGCCCGGCTAGTGGCCTTCCGTGCACGCTATCATTTAGTGGACAAAGACCATGACAGGTTAGTAACACTTCAGTATTAAGAGCCTGTGTAAAGTGACCATAAATACGTGTTGAGCTCGTCACACAAAAGAAAATGTGGTGTTAAATGGAGCGTTCATCCTAAAATTATCATTCTAAACCTTTTGAGTTTATTTCTTCTGTTGAACACAAACGAAGGTATGTTAGAAAAACCTGTCACCATTGACTTTCATGGTAGAAGATTAAATGCTATGGAAGTCAATGGTTACAGGTTTTCAGCTTTCTTCAAAATGTCAGCTTTTGTGTTTACCAAAAACAAGAAAAGATATTTTGAAAAATGTTGAAAACCGGTAACCATTGACTTCTATAGTAGAAAATCAAATGCTATGGAAGTCAGTAGTTTGAAGTTTTCAGCATTTTTCAAAATATCTACTCTTGC
Associated Phenotype:
Not determined