ZMP
zgc:163067
Ensembl ID:
ZFIN ID:
Description:
E3 ubiquitin-protein ligase RFWD2 [Source:RefSeq peptide;Acc:NP_001083011]
Human Orthologue:
RFWD2
Human Description:
ring finger and WD repeat domain 2 [Source:HGNC Symbol;Acc:17440]
Mouse Orthologue:
Rfwd2
Mouse Description:
ring finger and WD repeat domain 2 Gene [Source:MGI Symbol;Acc:MGI:1347046]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa19809 | Nonsense | Available for shipment | Available now |
sa18235 | Essential Splice Site | Available for shipment | Available now |
sa10199 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa19809
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 |
---|---|---|---|---|---|
ENSDART00000113609 | Nonsense | 334 | 694 | 10 | 20 |
The following transcripts of ENSDARG00000079329 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 2 (position 34843422)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 2 | 35140132 |
GRCz11 | 2 | 35122589 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCACGGCGGAAGAGACTGACGGCACACTTTGAGGATCTGGAACAGTGTTA[T/A]TTTTCCAATAGGATGTCTCGAATAACGGGTCAGCTGATTCAAAGTTATAT
Long Flanking Sequence:
AATCACTATGACCCCATGTTTTAGACTGCTGTGCTCAACAGATACATAATACATCTTTTTTTTTTTTCCTTCCTGAAGGAAATGAGTGGTATGTATTCACCCATAAGTGACATGGACTGCAATTCAGACAGTACTGTGCCACAGGTTGAAGCTCCCTCTCCTGCACCCAGGTAAGAAATAAAAACACTAATATGAGATGACAATTAATGACAGCGATGCAATATTTTTTCCCCTGAATAAATTAAATTCCTTTTCTGTCTCCAGCAGTAGCATAATAGACCCTTCGGAATACATTCAGCCTCCTTTTGGTGGAAACTCACAGGTTAATTGAATTAATTTATTCATGATTTCTTCCTGTCTGTTAATTCATGCTGACATTTGTTCACATTTATGTCGTTTCTTTCTTACTTTTAGAGTAAAAGACAAACATGGTACAACAGCACTCTTGCATCACGGCGGAAGAGACTGACGGCACACTTTGAGGATCTGGAACAGTGTTA[T/A]TTTTCCAATAGGATGTCTCGAATAACGGGTCAGCTGATTCAAAGTTATATATGGACTGTGTATTCATTTTACACATCTGCAATGCTGTTTTATTGAACGCAATCACTCTTCTTGTTCCTAGATGACAGCAGGACTGTTAACCAGCTGGATGATTTCATGGAGTGTCTATCAAAGTTTACCCGTTACAACTCTGTGAGGCCTCTGGCCACCCTCTCTTATGCTAGTGACCTTTATAATGGCTCCAGTATTGTGTCCAGGTAAGGTTTTAAAAGATTGATTAAAGTTAAGACCATGTTGTATGACTTCAGCCTAGTGTAAATCATCATAGCCAGCAGAGGGTAGTATTGTATTACTGAACAACATCCTTTTTTTTTTCTTAGCAAAAGCAGAAAATGACCTGTTTCAAAGCGTTCTTAAATATTTGTTTCTCTAAAGAATTATTTTTTACTTTGTTACTTATAAATTCCATCTTCTTCCATAAAGTATTATCAGTTAGAACA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa18235
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000113609 | Essential Splice Site | 579 | 694 | 16 | 20 |
The following transcripts of ENSDARG00000079329 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 2 (position 34849829)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 2 | 35146539 |
GRCz11 | 2 | 35128996 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AAAGCRGWATCCTATGCCAAGTTTGTCAATGGAGAAGAAATTGTCTCTGC[G/A]TAWGTATACACTCAAAGTCCTTGTGTTTTTTTTTTTTTTCCTTTATCAGT
Long Flanking Sequence:
GGAGCATGAAAAGCGGTGTTGGAGTGTCGATTTCAACCTTATGGATCCCAAGCTCTTAGCGTCGGGATCAGATGACGCAAAAGGTATTCCCGCAACCGAACCGTTCCTATCAAGTTATTTGATTTATAGTTCTTACGAAGATATTCTTTTATAAATACTCATGAATGCAACTCGCTTCTCCCCAGTCAAGTTATGGTCCACCAACCTGGACAATTCAGTAGCCAGCATTGAAGCCAAGGCCAATGTATGCTGTGTTAAGTTCAGTCCAACCTCTCGATATCATCTTGCCTTCGGTTGTGCAGGTACATAATTCATTTTAATCTATTAAAAGTTTGGCTTCCTGCAGAAGTCTTTTTAAAACTTTGTTTTAAATCTTTTACAGACCACTGTGTGCACTACTATGACCTGAGGAACACTAAGCAGCCCATCATGGTTTTCAAAGGCCACAGGAAAGCAGTATCCTATGCCAAGTTTGTCAATGGAGAAGAAATTGTCTCTGC[G/A]TATGTATACACTCAAAGTCCTTGTGTTTTTTTTTTTTTTCCTTTATCAGTAGAAATAATTTGAGGACAAAAGTCAGTGGAAGAAGTTAAGGGTAGATCTGTCTCTATTTTTTGTTGTACTATATATATTGCAGCAAGATATATTGCTTTTTAAGACCATTTTATGCCACTCGTTATATAATAAGAGTATAATAGCATCACAATGCTATTATACTCTTCCGAAAAACACATAATATTTTATTCTTAAGAATATTTTAACAATTTAAAAATTGGGTATTGTAATCAATATAGGAAAACGCATATCCAAAATTATAATGTTAGCTAATAGTGCAAGGTAAAAAGTAACACAGGCTAAAATATCTATATATATATAATATTATATATAATATAATATAGTCTAGTACCAGATCTATTTTCAGTTGTCAAACATCCACAAGAAAATACACTAATTTATAGTAAATACTATAGTGTTTTTTTTTTACCATAATGACACTGCCAGCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa10199
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000113609 | Essential Splice Site | 689 | 694 | 19 | 20 |
The following transcripts of ENSDARG00000079329 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 2 (position 34857570)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 2 | 35154280 |
GRCz11 | 2 | 35136737 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTCAGGAGTCAAATGTGTTGATTGCAGCCAACAGTCAAGGAACAATCAAG[G/A]TGAGTTGTGGTGCAAAACAAGCTAAACAGCAAYACAAAAGTCAATATTTA
Long Flanking Sequence:
GAGAAAAATCCCCAATCAGATCCCACGTCACACTGACATGGAGCAGCAGCGTTTTAAAACCAAAATGGTCTCTTCAGCATTTTCAAAACATTCAGGGTACTCTGGGCTCAAAAACTCTGTGGTAGTGTGGACGGAACTGTAGCAAATCATTTGCTTTTTAAAACTAAAACGTATTAGTGCAAACGGGGCTTTGAAACACGGTAGTGTCTGTTTAGCTGTGCATTTACTGAATAAGCACTGTGCTACATTCAAATATCACACTTTATATCTTTTCTTTTTATTTCTTTAAAACCCATTTTTTTACGTTTTTTGGAATCATTTTTATTCTGTTGTTTTTATCTGTTGTTATACTTGTTTCTTTTATTCTTCTTAATATAAAGCATTTTGAATTACTATTGTGTATCAAATGTGCTGTGTAAATAAATTTGCCTTGCCTTCTCTCTTCTGATTCTCAGGAGTCAAATGTGTTGATTGCAGCCAACAGTCAAGGAACAATCAAG[G/A]TGAGTTGTGGTGCAAAACAAGCTAAACAGCAACACAAAAGTCAATATTTACTGCAGAGAGCTTTGCTAATGCTAAAAGCAGGAGGATCTGTTGTCATGTTCTGATAGTTCTTGAATATTTCATTGCATTTCTTAACTCTCACATGATTTTACGGATAAGCTATGGCTACAGATGTTTTATTTCTCATTTCCGAAGGTACTTGAGCTGGTCTGAAGGTCCACTCGAATCAGTGGTCGGAGCCTAGTAAAGAACTTTTGCTTCTGGCGGCTTTCAAAGGGCGGCAGAACTGAAGCAAGTTTGTTTCTTTTCCAAGAAAACAGCCAGCAGAACTGGTTTCTATCAGCATTATATTTGCAAAAACTCAATCATTCTGCGTCGTCATACTATCGCTGTATGTGAAATGTTGAGATATGAGGACATGTTTGTGTCGACGGGGAGACAAGTGCAAATTCCACTATTTGAAATAAAGTTTTTGATGAATAAGGTGGAGGACAGGAAAT
Associated Phenotype:
Not determined