ZMP
IDH2
Ensembl ID:
Description:
isocitrate dehydrogenase 2 (NADP+), mitochondrial [Source:HGNC Symbol;Acc:5383]
Human Orthologue:
IDH2
Human Description:
isocitrate dehydrogenase 2 (NADP+), mitochondrial [Source:HGNC Symbol;Acc:5383]
Mouse Orthologue:
Idh2
Mouse Description:
isocitrate dehydrogenase 2 (NADP+), mitochondrial Gene [Source:MGI Symbol;Acc:MGI:96414]
Alleles
There are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa43120 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa13876 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa43120
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000004692 | Essential Splice Site | 37 | 447 | 2 | 16 |
Genomic Location (Zv9):
Chromosome 18 (position 25893930)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 18 | 26123613 |
GRCz11 | 18 | 26108131 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAATGGAAAAACTGGCTTGTAAGAATAATTAGTTTTTGTTTTATTTGACA[G/A]ATGCCGATAAACGTATCCAGGTGGCACAGCCGGTGGTGGAGATGGATGGA
Long Flanking Sequence:
ATCGTAATGCCATCTCTTTGATCATGTACAGAGCAGTGTTATAAAGGTAGTGCAATGCAGGCGCATGTGAAACGGTGTGTAAGTGTTTGCGAGACCAAAACATCCTCATTTGCTGGCTTGGTGCAGTTAAATGGCCTCCCTGGCAGTTTATTTTTTTCTTTTCATAGTAAATGATACATTATTTCTGTGCATTATTTATGAGCTTAATAGCTGATCCAGTGTCAGCAAGAATGACAGTTCAGTGCTAGTGATGCACAACGTGTTTCTTTAGAAACCAGAAATTGTACCGCCGACTAGTGACCAACCAGTGCAATGACTGCCAACATTTAGTGCCAAAGTCTCTAGTGGTGTGAACAGGGCTTTGTCTCTGTATTATTCTCCTACTTGAGGAACCACTCATTTCCGGGTGTCTCACAAGTGGGGTAAAAACACAATCACTTATTCAGGCTTGAATGGAAAAACTGGCTTGTAAGAATAATTAGTTTTTGTTTTATTTGACA[G/A]ATGCCGATAAACGTATCCAGGTGGCACAGCCGGTGGTGGAGATGGATGGAGATGAGATGACCAGGATCATCTGGGAGTTCATTAAAGAAAAGGTGCTTAAACGGCAAGCGTCTGAGTGAGCGAAAGAATGAGGAGGAGGGAAGCAGTGTCTGTCTGGTCTATTTTTAAATCTGTGATACATACACACAAACAGAGAGAAACAGAACGCAGGAGGGAAAGATGTAGAGGGCAAAGGAAAGAGAAGTGAGTAAGAAGCCTAGACAGACACAGACAGAATGAAAATTGGGTTAGACAAGAGTAGAGAGACAAAAGGAGACGGAAATTGGAAAGGGAATGCGACAGCATCTCTAGGGAGAATTAAAGGGATGAGGAGAGAGTGGAGGAGTGATCGGCGTGTTATACAGATCTCCTTTTTTAAAGCGACGGCATGATAGGCTTACTGGGAGAGTTACGCGTGAAGACTGAGATTATGTTCGCGTCACGCAGGGGGCAGAGCCAGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa13876
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 |
---|---|---|---|---|---|
ENSDART00000004692 | Nonsense | 37 | 447 | 2 | 16 |
Genomic Location (Zv9):
Chromosome 18 (position 25893928)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 18 | 26123611 |
GRCz11 | 18 | 26108129 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATRGAAAAACTGGCTTGTAAGAATAATTAGTTTTTGTWTTATTTGACAGA[T/A]GCCGATAAACGTATCCAGGTGGCACAGCCGGTGGTGGAGATGGATGGAGA
Long Flanking Sequence:
CGTAATGCCATCTCTTTGATCATGTACAGAGCAGTGTTATAAAGGTAGTGCAATGCAGGCGCATGTGAAACGGTGTGTAAGTGTTTGCGAGACCAAAACATCCTCATTTGCTGGCTTGGTGCAGTTAAATGGCCTCCCTGGCAGTTTATTTTTTTCTTTTCATAGTAAATGATACATTATTTCTGTGCATTATTTATGAGCTTAATAGCTGATCCAGTGTCAGCAAGAATGACAGTTCAGTGCTAGTGATGCACAACGTGTTTCTTTAGAAACCAGAAATTGTACCGCCGACTAGTGACCAACCAGTGCAATGACTGCCAACATTTAGTGCCAAAGTCTCTAGTGGTGTGAACAGGGCTTTGTCTCTGTATTATTCTCCTACTTGAGGAACCACTCATTTCCGGGTGTCTCACAAGTGGGGTAAAAACACAATCACTTATTCAGGCTTGAATGGAAAAACTGGCTTGTAAGAATAATTAGTTTTTGTTTTATTTGACAGA[T/A]GCCGATAAACGTATCCAGGTGGCACAGCCGGTGGTGGAGATGGATGGAGATGAGATGACCAGGATCATCTGGGAGTTCATTAAAGAAAAGGTGCTTAAACGGCAAGCGTCTGAGTGAGCGAAAGAATGAGGAGGAGGGAAGCAGTGTCTGTCTGGTCTATTTTTAAATCTGTGATACATACACACAAACAGAGAGAAACAGAACGCAGGAGGGAAAGATGTAGAGGGCAAAGGAAAGAGAAGTGAGTAAGAAGCCTAGACAGACACAGACAGAATGAAAATTGGGTTAGACAAGAGTAGAGAGACAAAAGGAGACGGAAATTGGAAAGGGAATGCGACAGCATCTCTAGGGAGAATTAAAGGGATGAGGAGAGAGTGGAGGAGTGATCGGCGTGTTATACAGATCTCCTTTTTTAAAGCGACGGCATGATAGGCTTACTGGGAGAGTTACGCGTGAAGACTGAGATTATGTTCGCGTCACGCAGGGGGCAGAGCCAGCAT
Associated Phenotype:
Not determined