ZMP
LOC564852
Ensembl ID:
Human Orthologue:
PFKFB2
Human Description:
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 [Source:HGNC Symbol;Acc:8873]
Mouse Orthologue:
Pfkfb2
Mouse Description:
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 Gene [Source:MGI Symbol;Acc:MGI:107815]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa14301 | Essential Splice Site | Available for shipment | Available now |
sa21882 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa14301
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000036110 | Essential Splice Site | 213 | 539 | 7 | 15 |
Genomic Location (Zv9):
Chromosome 11 (position 19214395)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 11 | 18631709 |
GRCz11 | 11 | 18794051 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AATGTTATAAGGTCACTTACCAGCCGCTWGATCCTGATGAATATGACAAG[T/C]AAGARTACTTGCAAAATGGACATGTTATGGTGTATCTAAATGTATAWACT
Long Flanking Sequence:
ATGCTGATTTTTATATTTGATTTACAAATAACAGATCTAAAATTAACCTTTTCTCGAAGGTATTTGATGCCACAAACACAACTCGGGAGAGGAGGGATCTCATATTGGATTTTGCACAGGAGAATGCATACAAGGTTTCAAAGCCACATGTATAATTTAAACTTCAATAAGATAAGTGTGTGTTAATCATTTTCCTATTTCTGTATGTTTGCAGGTGTTTTTTGTGGAGTCAGTATGTGATGATCCAGAGGTTATTGCTGCTAACATCCTGGTATGGAGTTTGTTTTTCATTTAACTGATGGTACAATGAATTATTGCTGCATAGCACTACTTTTGTTCATAAACTTTCTTTCATGGCCTTATTATTTCTTCAGGAAGTTAAAGTTTCAAGTCCGGATTATCCAGAAGCACACAGAGAGAGAGTCATGGATGACTTCCTGAAACGTATTGAATGTTATAAGGTCACTTACCAGCCGCTAGATCCTGATGAATATGACAAG[T/C]AAGAATACTTGCAAAATGGACATGTTATGGTGTATCTAAATGTATATACTGATAGGGCTACCAATGAGCCAAAACATTATGATTTCATTCGTTCATTCATTTTCTGTAGTCCCTTATTTATCAGGAGTAGCCACAGCAGAAAAAAACACCAACTATTCTGGCATTTGTTTTTACGAAGTAGATCCCCTTCTGGCCACAACCCAGTACTGGGAAACACTCATGCACTACAGCACATTTAGTTCTATTCACTTTTACTGCATGTACTGTGGGGAAAACCTGAGCAATGGAGAAACACAGAGAGAACATGAAACTCCACACAGAAATGCTTCCTGGCCCAGCCGAGACTCCAACCAGCAACCTTCTTGCTGTGAGGTGACATTGCTAACCGCTAAGCCACCATGCCGCCCAATATTATGACTTTTCAGAGATTAAAGATTTATGAACGCTCATACATTTTCAAGCTGTAAATGAAATGGTCTCGTTTAGTCCATGCATATGCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21882
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 |
---|---|---|---|---|---|
ENSDART00000036110 | Nonsense | 311 | 539 | 9 | 15 |
Genomic Location (Zv9):
Chromosome 11 (position 19212595)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 11 | 18629909 |
GRCz11 | 11 | 18792251 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATAAGCTATCTAACCTGAAGGTTTGGACAAGCCAGTTAAGGAGAACCATC[C/T]AGACGGCTGAGGAGCTGGGAGTTCCCTATGAACAGTGGAAAATCCTCAAT
Long Flanking Sequence:
GAATGAGTAAAAAAAAATGTCCTAAATAAATTGATTGGATTTTTATGGTTTGCTTTTGCTTGTCCTGCTTTCATGCCAGTAAACATGAATAGTTAAAGCTAAAACACTCCTGATCAATGTCTTTCCCCAGAGACCTGTCCTTCATTAAGGTGATAAATGTGGGTCGTCGATTCCTGGTGAACCGTGTTCAGGACTACATCCAGAGCAAGATTGTCTACTACCTCATGAACATCCATGTACACTCGCACTCTATCTACCTGTGCAGGCATGGAGAGAGTGAACACAACATCCAAGGGCGTATTGGAGGAGACTCTGAACTCTCCTCACGAGGGAGACAGGTCTGACCTCATTCAGTTAATTCTTTTTAGCATCAATTAATGAGAAGATTCTTGACTTGCTTTATCTTTTGCGAGTAGTTTGCGAGCGCCCTGCATGAGTTTGTTGAGGAGCATAAGCTATCTAACCTGAAGGTTTGGACAAGCCAGTTAAGGAGAACCATC[C/T]AGACGGCTGAGGAGCTGGGAGTTCCCTATGAACAGTGGAAAATCCTCAATGAGATAGACGCTGTTAGTATTACAAGATCCCAGCAGAGATTGGATTAGGTTTTTATGTATCATATGTTCATCAGCATTCATTGTTCTGACGCAGGGTGTTTGTGAAGAGATGACCTATGAAATGATCCAGAACACATTCCCAGAGGAATTTGCTTTAAGAGATCAGGACAAGTACCATTACAGATATCCAGGAGGAGAGGTACGACATATCATAAACTTATCAGTTTCATTAACGTTCATCATCAGAGTATGTCTCTTCTATATATAAAGTCCTATGGGTTAAGTTAGCATATGTTAATATCTGAGTTTTTGTGGAAAGCTCTGACTTCATAAGGCTTTCTGTTCTTGTAGTCATATCAGGACCTGGTTCAGCGACTGGAGCCTGTAATTATGGAGCTTGAGAGACAAGGCAATGTACTAGTCATCTGCCATCAGGCGGTAATGCGGTGC
Associated Phenotype:
Not determined