ZMP
ENOX2
Ensembl ID:
Description:
ecto-NOX disulfide-thiol exchanger 2 [Source:HGNC Symbol;Acc:2259]
Human Orthologue:
ENOX2
Human Description:
ecto-NOX disulfide-thiol exchanger 2 [Source:HGNC Symbol;Acc:2259]
Mouse Orthologue:
Enox2
Mouse Description:
ecto-NOX disulfide-thiol exchanger 2 Gene [Source:MGI Symbol;Acc:MGI:2384799]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa45515 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa22470 | Nonsense | Available for shipment | Available now |
sa16714 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa45515
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:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000084664 | Essential Splice Site | 100 | 680 | 3 | 15 |
Genomic Location (Zv9):
Chromosome 14 (position 24351842)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 14 | 23051632 |
GRCz11 | 14 | 23348877 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AACCTCGGAATGGCCCCCATGAGCATGACTGGCCAACCTATCATGTCAGG[T/A]AAGCTATGAGTTATATGAGCTATAAGAACTTTTATTATGTTTTTTTTCTA
Long Flanking Sequence:
TTTGGTTCCCAATTTACCATAATAAAATATGTTTTATGTGTTAAGCCGAGAAACTTCTCTCCCCTTTTAACTCGAACTTCTCAATTCATCAAGTTCCAGTCCTTGGCTCAGGCTTTTTATGCTTATATAATACATAAAAATACAAGTAGATTTATTTAACCCTTATTGTTTTCTATGCATAATTTACTATACTATTGAAATATTTCATAAAACTGGAGTTATTTGTGACACAAACTGTGAATGTGCTCAGTTTTGCAGATTCAGACATGTTCCGCTTTATTAATATTGATGTCTTCATATTTGTACTTTTGGGTTGTCAGATATAAATCCTTAAATGTTTCAATATCTCTCTCTCTCTCTCTTTCAGAGGGACTTCGGAATATTGGGATGGACTCCAACTCTTTAGCGATGCCCATTTCAGATCCTAATGCTTGGGCTACTGCCATGAATAACCTCGGAATGGCCCCCATGAGCATGACTGGCCAACCTATCATGTCAGG[T/A]AAGCTATGAGTTATATGAGCTATAAGAACTTTTATTATGTTTTTTTTCTAAGCCTCAAACCAATTCAAAGTCTAGTTTAGAGTTGTAACCTTGTGCATATGGCTACTGAACTTTTAAATGTTAAAAAATTATTTACTTGTAGCAGCCTATTTCTACATTTTTTCTTTATCATTTAAAATTTTTATGCTTTGCTACTGTCCTTTAAATCACTAGGTTTCACTCATATTTTTATCTATTAGAATGTAAATGGGCAACTGGGGTGGTGGTTCCCACTCTTAAGATGGAGGGCCGAAGGGTGTGCTCCAACTATAGGGGGATCACACTCCTCAGCCTCTTTGGGATAGTCTGTGCAAGGGTACTTGAGAGAAAGATCCGGCTGATGTTGGAACCTAGGATCCAGGTTTGAACAATGCGTTTTTTGTTCAGGTCGCGGGACACTGCTAGCTTTATACCCTCACTAGGGTGCTTGAGGTTTCATGGGAGTATGCCCAACCAGTTTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa22470
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 |
---|---|---|---|---|---|
ENSDART00000084664 | Nonsense | 494 | 680 | 10 | 15 |
Genomic Location (Zv9):
Chromosome 14 (position 24447357)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 14 | 23147147 |
GRCz11 | 14 | 23444392 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGGTAAAGCGCAGCCCCAGCGCAGCGAGGAGGATGCCACCCGCCAGCAG[C/T]AGCTCAGCTTCCTGCAGCAGGCTCTGCAGGGCATGCAGAAGGTATGCAAA
Long Flanking Sequence:
ACACTTTCTCTCCATTTAATCCTCTCTAATTAGCCTCTGAAAGCCAAAGGAACGCAGCAGTGGTACTGAGGGTCCTTTCATCTCAGTCCATCAGCCAAATTCTCCAAGCGGCTTTTGAGGAACACTGTTATCCTCTGCCATTCTCCATCTTTCATTTTTACTCTTATGAGGGTGTACCGCCGCCACATCGTGACTTATTACTCTGCACAATACGCCTAATACGCGCCTCTACTTTTTTTGCTCCGTTATTGTTTTTTTACTCGCCCATGTGTCTCTGTCTGCTTATTTCCCTTTTCCTGTCGCCAATGCAATTGTCATTTTTCATATCTCCTCAACCGTCTGCCCTCACAGGGCCGCTGGCTCAGGTGGAGGCTCTGAAAGAGGAGAACGACAGTCTGCGGTGTCAGCTGGATGCCTACAGGAACGAGGTGGAGCTTTTGAAACAGGAGCAGGGTAAAGCGCAGCCCCAGCGCAGCGAGGAGGATGCCACCCGCCAGCAG[C/T]AGCTCAGCTTCCTGCAGCAGGCTCTGCAGGGCATGCAGAAGGTATGCAAACAAAAAAAAGTGTTGTTGTCTTGTGTACATTCAAAAATATTTAAACTTGTTCTCTTGTTTTATTATTTTGATATTTCAGTTGACATGAAATGAAAATCCACACTCCTCTTTTGAGAGAATTTTATTCAGTTTTAATATAAATGTTTTGTCCATCCAAAAATCACCTCAAATGTATATTTATTTTTATTTGTTTATTATTATTATTATTATTATTATTATTATTAGTAGTAGTAGTAGTAGTAGTAGTAGTTTTAGTAGCAGTAGCAGTAGTATTAGTAATATTTTATTATCATTATCATTATTATTATTATTATTATTATTATTTAGGTTTGCTATAATTTTCAGAAATATTTATGACTGCCTTACAAATTATGAAAAGACAGAGAGAATAAAGCCTATGGGCTTAAACAAATGTAGCTTCATGCATTGTTTTACTTACATATTTTTCAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16714
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 > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000084664 | Essential Splice Site | 638 | 680 | 15 | 15 |
Genomic Location (Zv9):
Chromosome 14 (position 24481764)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 14 | 23181554 |
GRCz11 | 14 | 23478799 |
KASP Assay ID:
2260-7512.1 (used for ordering genotyping assays)
KASP Sequence:
GCATATGAAAGGAGTTGRAGTGTTTTAATCATCATTTTTCTTGTTGTTTC[A/T]GATCAGTACCACAGAAGTGGAGAGTCTTTTGGGTCGYCTGCCCTGCACGT
Long Flanking Sequence:
TTTCTTTCTTTTAGCATTCTTCATGACTTGTTTGTAGTCTTATCAACTTTGGGCTAGTTGTAGATGAGTTTGGAAGCAACTCGTAACATAATATTATTAATAACGAAATGACTTGGGAAAAAAAATTTGTTCATCTCAATGAGACTCAAGGGTCCGAGTGAGTAAAATGATCTGAACTTCCCATCACTAAATGAAAGCTTGAGTATTGTTTTGTAATAAATATTTTCTTTTTTTTACATTAAAACAAATAATTAAGTTGTTCCAAGCATGAACATGTTTAGTGAACACAAGCAGTCAATTTTAAACTTGAATCTGTTTATTGAACATGCGTCTCCACTATACAGTAGTTGCTTTGAAATGAACTGTATTGTGAACATTAAACATGAAATGATTCTTCCTTTGTACTAGAAAAGCAGAAGCATTCCACCAGTAATCCTTTAACCCCACTGTGCATATGAAAGGAGTTGGAGTGTTTTAATCATCATTTTTCTTGTTGTTTC[A/T]GATCAGTACCACAGAAGTGGAGAGTCTTTTGGGTCGCCTGCCCTGCACGTTTAAACAGGAATTAACGGGCGTTGGGGCGAGTTTGGAGAAACGCTGGAAGTTCTGTGGGTTTGAAGGCATTAAGACAGCGTAGAGACACAGGTTGGGCTTTTCTCTAGAAACAAAGTGGCCGATAGACCAGAGGGGTTACAAACAATGATCTGCCAGCCCTCTGTGTCCATCCGCCTATGGGATTTCAAAATCTCAGAAAACCCGGAGAGCCTCAAGACTTTGGTGTGTGTGTGTGTAGTATGTTTTAGTATGTGTACACACATGTCAGAGTGTGTGTATGTGCACCATGTGAACAGACTGTGCGCTTCTACCACACAACGTGAAAAACTCATCGGGTAAAAATCAGGGTCTGCTGAACCGAGGACTTGAACTGTCAACACACATTTTCTTTTTCTCGTTTCACCTGTAATTTGTAAAAAAACAAAACAAAAAAAAACAAATAAAGAACA
Associated Phenotype:
Not determined