ZMP
LOC570630
Ensembl ID:
Human Orthologue:
EIF2C2
Human Description:
eukaryotic translation initiation factor 2C, 2 [Source:HGNC Symbol;Acc:3263]
Mouse Orthologue:
Eif2c2
Mouse Description:
eukaryotic translation initiation factor 2C, 2 Gene [Source:MGI Symbol;Acc:MGI:2446632]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa23583 | Essential Splice Site | Available for shipment | Available now |
sa23584 | Essential Splice Site | Available for shipment | Available now |
sa196 | Nonsense | F2 line generated | Not yet available |
Mutation Details
Allele Name:
sa23583
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:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000087187 | Essential Splice Site | 86 | 873 | 3 | 20 |
Genomic Location (Zv9):
Chromosome 19 (position 42456878)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 41899892 |
GRCz11 | 19 | 41484947 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATTATGAAATAGACATCAAGCCTGAGAAATGCCCACGGAGAGTTAACCGG[T/A]AAAATCTTTTGACTCAACCTAAAATTTCCTACTAATTGTTTGGGTGCTCT
Long Flanking Sequence:
CATGTGATGCGATTTCCTAGGTCAGAATTCACCAAGCTTGAACTTTCCAATGCAGCAAACTGCAAACTTGTCGCATGAACTTTCGTTTCCGTTCTGACGCATTCACATGCGTATGAATGGAAATCTATGGGGAGAAAAGGGCAGTGTGACCGCAGCTTTAATAAAGGTACTAGAAACCTACTGAAAGGTGTGTTGAAGCAAGATGGAGCTAAACTCAGCAGGACACCGGCCCTCCAGGACTGAGTTTGGACACCCCTGATATAAATCATTGAATGCATTTGAAAAACCTGACTAATTTGTGCATGTGTCCTGCAGCTCCCGCGTCTCCTCCAGCACCACAAGAATATGTCTTCAAACCACCTCAGCGGCCAGACTTTGGCACAATGGGTAGGACAATCAAGCTTCAGGCCAACTTCTTTGAAATGGAAATTCCCAAGTTGGAGGTTTATCATTATGAAATAGACATCAAGCCTGAGAAATGCCCACGGAGAGTTAACCGG[T/A]AAAATCTTTTGACTCAACCTAAAATTTCCTACTAATTGTTTGGGTGCTCTGTACTTACTCGCTTGTTTTTTTTCTTTCTTTAGTGAAATAGTTGAGCACATGGTCCAGCACTTTAAAACGCAGATCTTTGGAGATCGAAAGCCTGTGTATGATGGGAGGAAGAATCTCTACACTGCCATGCCTTTACCCATTGGAAGAGACAAAGTATGCACCATTGAAGTCTATGTTAGCTTCATTACTCTAAATGCTACTTAAAATGCTGCACTGAAATCTTTACACCGTATAGATGATCATATATCACTGATGTGCCAAACTGCTCTGTTTAGGTGGAGCTGGAGGTCACGATTCCTGGGGAGGGAAAAGACAGGAGCTTTAAAGTCGCTATAAAGTGGATGTCCTGTGTCAGTCTGCAAGCTTTGCATGAAGCACTCTCTGGACGGCTACCAAACATCCCTTTCGAGACCATTCAGGCTCTGGATGTTGTCATGAGACATTTGCCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23584
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 |
---|---|---|---|---|---|
ENSDART00000087187 | Essential Splice Site | 438 | 873 | 12 | 20 |
Genomic Location (Zv9):
Chromosome 19 (position 42464350)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 41907364 |
GRCz11 | 19 | 41492419 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGCATTTGGTTGAATCCCTGTCTAATTTGGTCATGTCTTTGGCTGTTTC[A/G]GAACAAAGCAATAGCAACCCCAGTCCAGGGCGTGTGGGACATGAGGAACA
Long Flanking Sequence:
GGGCGGGGGGCTCTGTTGGAGCAAAAATTATTTGTCGCTGTTTGTCAAATAATTTTGAAATTAATGTTTTATTGACCAATACATTAATAAAATTTTTTGGAAAAAGTACTGAATAATATTTACAACTGAATAGTATTGTATTTTCAATGGAGTTTCTGTGCTAGCCTGCTTTCATCGGAAGTTCATCATTGGCTGAACAACACTAGCTGTGCATATAGCCCATTGCAACACTGAAAATGGACATTAGTAACAGGTGTGAACCAGAGCATTAAATTTCACCCTTACCTTCATTTGTTTGCAACAGATGAGAAGTGCCAACTTCAATACAGATCCTTATGTGCGTGAGTTTGGAGTCATGGTAAGAGACGATATGACTGAAGTCAATGGTCGGGTTCTTCAAGCACCGTCGATTCTCTATGGTGGAAGGGTAAGAATCTCCTCTGCTCAACTCAGCATTTGGTTGAATCCCTGTCTAATTTGGTCATGTCTTTGGCTGTTTC[A/G]GAACAAAGCAATAGCAACCCCAGTCCAGGGCGTGTGGGACATGAGGAACAAGCAGTTCCACACAGGGATTGAAATCAAAGTTTGGGCCATTGCCTGCTTTGCCCCACAGAGGCAGTGCACAGAACTCCTGCTGAAGTAAGTCAACTTTAAAGTACACATGAACCAGAAGCTGCGTTCGCTTTTTTTTTTTCATATTGTGATGCAGTCGCTATAGAAACAGAATATTAAATAAGAAATCAGTTGCCGTGACTTGTTTTTTCTGCTGCAAGCTGATTGGATGTAGCAAAGTAGGCATTTCATTCAGAAAGATCAGGAAAGGGCTTCGGGAGAGTTATTATAATCTAACAGTCATCACCTCATCAGTTCTGTTGGCTGTCAAAATTGACAGCTGAAGGAGAGTTGAGTATGTTGGCCACGCCCAATACCTTAGACAAACGTAATCTGAGAAGTTAACCAAAAAACCAGGAAGTGCATTTTCAGATTTCAATTATTAATTATTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa196
Status:
F2 line generated
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 |
---|---|---|---|---|---|
ENSDART00000087187 | Nonsense | 530 | 873 | 13 | 20 |
Genomic Location (Zv9):
Chromosome 19 (position 42465556)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 41908570 |
GRCz11 | 19 | 41493625 |
KASP Assay ID:
554-0108.1 (used for ordering genotyping assays)
KASP Sequence:
ACAGTGTGGAGCCCATGTTCAAACACCTCAAGTACACTTATCAAGGGTTA[C/T]AGTTGGTGGTGGTCATCTTACCCGGCAAGACTCCTGTTTATGGTAATTTA
Long Flanking Sequence:
ACCTTCCAGCTGCAATCCATCTCTGGGAAACATCCCCACACACCCATTCATACACTACGGACAATTTAGCTTACTCAATTCACCTGTACTGCATGTCTTTGGACTGTGGGGGAAACCAGAGCACCCGAAGGAAACCCATGCGAACCCAGGGAGAACATGCAAACTCCAGGCTCAAATCAGTGACCCAGCGACCTTCTTGCTGTGAGGCGACAGTGCTACCTACTGCGCCACTACTTTGCCTGTTTTTATTTGTACCTTAATCTGCCTGTTTTGTCATAGAGAAATATTAGCATTTAAGGAAATTATTTTACAAAAGTAAATACTGACCCAGATTTTTATACTATGTTTGTATCCTCAGGGCCTTCACTGACCAGCTTCGTAAGATCTCACGTGATGCTGGGATGCCCATTCAGGGCCAGCCGTGCTTTTGCAAATATGCCCAGGGAGCAGACAGTGTGGAGCCCATGTTCAAACACCTCAAGTACACTTATCAAGGGTTA[C/T]AGTTGGTGGTGGTCATCTTACCCGGCAAGACTCCTGTTTATGGTAATTTAATTATTATTATTATTATTTTTTTTTTCATCTCATATCTTTAGTGTATTTTTTACACACTCTAAATGCTAAAATTCTTACAGCTGAGGTGAAGCGTGTTGGAGACACTGTTCTCGGCATGGCCACGCAGTGTGTCCAGGTGAAGAATGTGCAGAAGACCACACCTCAAACCCTTTCTAACCTCTGCCTCAAGATTAACGTCAAACTGGGTGGAGTCAACAACATTCTTCTTCCACAGGGCAGGTGAGGGCAGCTGTTACAAATGCCTTTGACATGCAGAAAGCTTGAGGCAATTTCTTGTTGTCCTTTACGTCCTTTGATGCTTTCCCATGAAACTCAAAGGGTTAGTTCACTCGAAAATATGTAGTCTGTCACCCATTGATCATTCCAAACCTGTAAGACTTGGGTTATTCTTGGGAACAAAATTATCTCACTTTATTTTGTTAAGCAAT
Associated Phenotype:
Not determined