ZMP
raver2
Ensembl ID:
ZFIN ID:
Description:
Ribonucleoprotein PTB-binding 2 [Source:UniProtKB/TrEMBL;Acc:B7TXW9]
Human Orthologue:
RAVER2
Human Description:
ribonucleoprotein, PTB-binding 2 [Source:HGNC Symbol;Acc:25577]
Mouse Orthologue:
Raver2
Mouse Description:
ribonucleoprotein, PTB-binding 2 Gene [Source:MGI Symbol;Acc:MGI:2443623]
Alleles
There are 5 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa20722 | Essential Splice Site | Available for shipment | Available now |
| sa1732 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa20722
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 |
|---|---|---|---|---|---|
| ENSDART00000111837 | Essential Splice Site | 589 | 862 | 9 | 15 |
Genomic Location (Zv9):
Chromosome 6 (position 31154513)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 6 | 31475429 |
| GRCz11 | 6 | 31462343 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCCAGCCAATCATCACAGCGCAAGTGTGCAGACTAGTACTTCCGTTACGG[T/C]GAGCCTGCTTTCCCTCATAGATAAAACTGAGTATTTTTGGTCTTTTCAGA
Long Flanking Sequence:
TGTCTGGTATAGGCATTCATCAAAGCATTTAAGACCTTTGAAGAGTTTGTTATTGTGCAGGGTCATTTCTATTTGAATATCAGTGCCATGCAGGTGTTACAGTGAGGTAGGAATTAAGGTTGTATGAAGTTTATACACTGTATGCACTGAAAACTAAAGCTTTTTTGCTGTAGTATATTAATAAAACGTTCTCTGGTTTGTAGAGTTGGGACAAGACTCTTCTCTAGTCACTTCTCACGGTGTAAACTCTGGGATGGTGTCACATTTACCGGGACGTTCCCTCGCTGAGCAGAATGGAGTCGCGTTGACGTGCCTGGCTCCAGAGAAACAGCCTGCTCCACCGGGAACCACAGGGGGATCTCTAAGCTCCCAAACACAGCTGCAAAACTTCCTTCCTGGGATTAACACTTCAAGTCTTGGATCTTTACTGGGGAGCGCAGCGCACAAAACTCCAGCCAATCATCACAGCGCAAGTGTGCAGACTAGTACTTCCGTTACGG[T/C]GAGCCTGCTTTCCCTCATAGATAAAACTGAGTATTTTTGGTCTTTTCAGAGCTTTAAATTAATAGAATAATTACTACTATAATACTGCTAATAATAATAACATTATACAAAAGCAAATTGTCACGAATAAACTGAAAAAGCCCCCCCGAGATAAAGAAGGCATGAAAGTATGGTTTTTATATTTATGTAGGCTAGAAAATAACGTTTTGTAATATTTTAATTCTTTATATTTATATCCTATATATTTCCTTATTATATCCTATATTTATCCTTAATATTTTAATTCTTTTTCATATGTAAAGATATTTGAGTATTGCTCTACATCATGTCTGTATTAAGCAATAAGCTTATAAGCAATAAGGCGCACAACTAACACGCTCTGCGGTGGACTTTAGGCCGGTTTGTTCTCGTCTATAGAACAGACTATTATAGTTTCTTAAAATAGCATTGCACCAACAATGCGCCTCAACATGCCTTCCTTTTTAGACCAGAACGCCTAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa1732
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 > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000111837 | Nonsense | 718 | 862 | 13 | 15 |
Genomic Location (Zv9):
Chromosome 6 (position 31133738)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 6 | 31454654 |
| GRCz11 | 6 | 31441568 |
KASP Assay ID:
554-1677.1 (used for ordering genotyping assays)
KASP Sequence:
TAAGAAATGTGTGTGTTTATGTTCCACAGGTGGTGGTCACCTCCWCATAC[G/T]GAGACTACAGCTCCTACATGCACGCTGTCAGTCAGTACTATTCTCAGACG
Long Flanking Sequence:
TAGCTTCATGAGGGAGATTGAGATGTTGCCATTTAGTTTAAATGGAAATTTTATTGTGTAGTCTGAAAAAGTCAGATCAGCACCACCTTGGTGAGTAGATAAAGACTGATTTTTTGTTCATTTATTTATTTATTTATTTATTTATTTATTTATTGGAATGAACTGTCTATTTAATGAAAATGTAAATATGTTAGGGCAGGTTTTTTCCAAATAAATTTGCTATGTAGCTGCAGGATGTTGCTGAGAAGTCAATAAATAAATCATGAAAAAAAAGTTTGTTTACCTACATGTCATGTGACCAGTAACCAAAAGCATGCATTTATACTGAAAGCTGAGCAAACATTGACTCAGTGTATGCACAAAATGTTCAGGTTAAAAATTTTGCTTACAAAAAACGGAAAACATCCAACTCAAGTTAAAAAGAAGGTCAATGGAAAGTCCCCAGCATGATAAGAAATGTGTGTGTTTATGTTCCACAGGTGGTGGTCACCTCCTCATAC[G/T]GAGACTACAGCTCCTACATGCACGCTGTCAGTCAGTACTATTCTCAGACGCAGATGAACCAGACAGCTGCTCAAGTCTACCAGCACCGAGATGTCAGCAAGGTAATGTACACACACACTGCGACACGTCATGCTTAATCATGCTCACTTTACAGTCTACATGAACCAACTCTGTTCATCTTAGAATCTCTACACACTGATAGGGGAGTTTACTGTGCAGAGATAAACATACACTATGTACAGAACCAAACATGCAGAGCAGACATCACACACACATACAGGTCAGAAATACTCCAGTCGTCAATCTTCTGACAGATGTCAGAGAAGTCCAAATCCTGAACGTCCACTGTGTCTAAGTGTTTCTTGGCATGTGAGGGATCACTGTATGCACACTGTGGTTCTGACACCACAGACCAAAATAGAGAAACATTTGACTTCTCTGGAGGTATATAGAGTTTGTAAACTGTATGCATTCAGCAACACAAAGTTGTATACTGATAT
Associated Phenotype:
Not determined