ZMP
rabep1
Ensembl ID:
ZFIN ID:
Description:
rab GTPase-binding effector protein 1 [Source:RefSeq peptide;Acc:NP_001116759]
Human Orthologue:
RABEP1
Human Description:
rabaptin, RAB GTPase binding effector protein 1 [Source:HGNC Symbol;Acc:17677]
Mouse Orthologue:
Rabep1
Mouse Description:
rabaptin, RAB GTPase binding effector protein 1 Gene [Source:MGI Symbol;Acc:MGI:1860236]
Alleles
There are 5 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa15851 | Nonsense | Available for shipment | Available now |
sa14919 | Nonsense | Available for shipment | Available now |
sa20551 | Nonsense | Available for shipment | Available now |
sa11256 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa15851
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 |
---|---|---|---|---|---|
ENSDART00000110182 | Nonsense | 540 | 850 | 10 | 18 |
Genomic Location (Zv9):
Chromosome 5 (position 60758821)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 5 | 58390948 |
GRCz11 | 5 | 59060657 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTGCTCTAATTAYGAGAAACAACTGCAGGTYATCCAGGGACAAGAGGCC[G/T]AGACACGAGAKCAGGTTGGTGCTTCTAYGGCTTCAAAAWCAGGTCTYTAA
Long Flanking Sequence:
GCCGCATTACACTAGTGGCATCTAGTGGCTGTTTCCCAAATCGCACTAGAGTGTCGCCTCTTGGTGATTCTATGCTCTTTGGTGGTGCCGCTCGCTGCAAAAGTTGGGACTTTCTCAACTTTTCAAGCGCAGATGGAAGTGTCAGCCAATCAGATCGCTGTATGCAAATACACCAGCTCAGACAGTAGCCGATTGCTGACTGCTTTCATTAGCTGACGCTTCTATGCTCGCTGTCAAGCGTTGATGCTGAAGCCCCGTGTGAATGGGTTGTTAAAATGCTATTGTTTTGAATTTTTGTTCAAATACACATGCACAGTGAAGCATACGCTTGTTTGAAATATTCAGCGCAGATGAGATATCTGAAGTCTTAATTCAACATGTGTGTTTGTGTTGGTGTGGTTTGACCTCAGCTGAAGAACGCTGGAAGGAAGTTGGGCCGGCGATGTGACATGTGCTCTAATTACGAGAAACAACTGCAGGTCATCCAGGGACAAGAGGCC[G/T]AGACACGAGATCAGGTTGGTGCTTCTATGGCTTCAAAATCAGGTCTTTAAGTAAATCACACAAAAGTGTAGTGAAACTATTGAAAAGGACAGGCTCTGGTCATGTTTCTACAGTGATCTTTCCTTTTTTCCTTTCTTTGCCGTAGGTTAAAAAGCTACAGGCCATCCTGCGGCAGGCGAATGATCAGCTGGAGCGGACGATGAATGAGAAACAGGAGTTGGAGGATTCGGTCAAACAGGCCAATGAGGACACTACTGCCAAGGTGAAACTCATCTCTCTTTAGTGAAGCACAAATGCATTGACAAAACTGGATGTTATCACGTCCTACTCAGTGCAGAAAGTTCAGTAATGCTTTGAGAAAGATACAATAATGCTGTGTCTTCATAATATATTTCTTGCAGGATCCAAACGTTAAATTAACATACTAACACATCACGACTTAATAATGCTTTTTTTTTTTTTGCTTGTTTAAATTTGGCTTTTTGCATGATGCATATTTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14919
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 |
---|---|---|---|---|---|
ENSDART00000110182 | Nonsense | 615 | 850 | 12 | 18 |
Genomic Location (Zv9):
Chromosome 5 (position 60761294)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 5 | 58393421 |
GRCz11 | 5 | 59063130 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCAGCGCTCTMCAACAGGCCTTYAGYCAGGCCAAGAGGAAYACCCAGGAA[C/T]AGATGGTACMAGCAAAAACACTYACTCATTTTGCTTCATTAATTTCAACC
Long Flanking Sequence:
GGGTTGTACTAAAATAGGTAAAATAAAATCATATTGACATTAGAAATGTAAGATAATTAATAAGCTAAATTACTTTTTTTTTCTATTCTTTTTTTGCAATGTTAATTAACTATTCTATTATTTATAATTAATTTAAAATAACTATCATCTCAATAGCACTACTTAAGCATAAGAGACTTCTTTGTACCTTACAGTATCGGCATTGTACTGTATAAGGCACTATGGCTTTGCAGCTTACAGTTTGGAAACATCAAATATTTGTTTTCTAAAAATAGTGACTACCTAAGCAGCTCACCGGTAGCTAGAACAAAGCCATTGTTTAAATTTGAAGAATGCACGGACTGCTCTTAATGTTGCCGTTCTTCTAAGTGAAACAATGCTTTAATTTTCATTAATCTGGCACACAGATCTCGGAGCTGAAGCAGAAAGTTCAGGAGTCGGAGTCTCTCTTCAGCGCTCTCCAACAGGCCTTCAGCCAGGCCAAGAGGAACACCCAGGAA[C/T]AGATGGTACAAGCAAAAACACTTACTCATTTTGCTTCATTAATTTCAACCAGAGCATGTGGTTTTTTTTCATGCCACAAAACTGCTCTATTTACTGAAGCCTTCCTGAATGATTAACCCTCAAATGTATTTGTATATTAACGGGAAAGAAGATTTATTTCAGCACATTTCTAAACATAATAGTTTTAACTGCATAGTAAAGTTTCAGGACAAACTTTATGGTGGCTATGGTGGAAAGCCTTATATTCTTAAGGCTGTGTGACAGTCTGATAAAGAGTTATGAGCTCTCAAAGTTTGACCCAATGTTAAGTCAATGGCACTTTTCGGAATTTTCTGGGTCATTTTTTTTGGAAAACTGAAAGTCGGATCAGTTGGAAAAGATATAGCAACCAGAGTCAGACCAGTTTGAAGGTCTGAGGAAAGTTAGAAGGATATAGCTTGGAAGGCTTAGGAGGAGATAGACTTTAAAATTAAAAGAGAAAAATTAAAAGCTGCTTTTAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa20551
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 |
---|---|---|---|---|---|
ENSDART00000110182 | Nonsense | 738 | 850 | 15 | 18 |
Genomic Location (Zv9):
Chromosome 5 (position 60770063)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 5 | 58402190 |
GRCz11 | 5 | 59071899 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTTTCTTCCATCCTGTAGCATCTTTTTCCAGCCTAAAGACGGAACTGGAA[C/T]GAGTGAAGAGTGAGAAGGAACAGGTAGGAAAGAACACAGATATGCAAGTC
Long Flanking Sequence:
TGATATGATGTACTTGTAGAAAAAAATGATGTCCATATATGTGGACTCGTGGTCTGAACTTCCATAAAACACAATAAATTCACCTTTGTGTAACCAAATGAAACGCTCTTTATTTCTGCCTTGAATACAGCAGTTTTTTCCTGACTGTTTTAATACATTAATAACACATACACACATTTTTTGAACATGTTTTGACTGTCAGTAAAAAAAAATTATTTGCCCATTTTTGGACGGTTAAAATAGTGTTTGGGACATTTCATATGCTGCAAAACAGTTTCAGGATGACACTTTATGTCTGTAACAAAATATAAGACATAAGAGTTAAAATGTGCTGTCCACGTATGTGGCCACTAAGCCCTAGGATAAAGATAAAGCTAAATATTGTTGTTATCAAAAGTAAAAAAAAAAAACTGCCAAACACTACTACAGCATGTGACTTTTTGTTTTTGTCTTTCTTCCATCCTGTAGCATCTTTTTCCAGCCTAAAGACGGAACTGGAA[C/T]GAGTGAAGAGTGAGAAGGAACAGGTAGGAAAGAACACAGATATGCAAGTCATATGTATACAGTTAAAACCAGAAGTTTACACACTCTCTAAAAAAAAGGAACATAACCATTTTTTTAATTGTCTGATGGTAAATCATACTAAACGTTTACTATTTTAGGTCCGTTAGGATTACCTAAATGATTTACATTTGCTAAATGCCAGAAAAATGAGAACAGTTTTTTTATTTTTTATTTTATTTTTTTATTGATTTCCAGACAGTCAAAAGTTTACATACATTTTCTTGGTATTTTTTAAGCTTTGCTTTTAAACTGTATAACATTGGTCAAATGTTTTGGGTATCCCTCCACAAGCTTCTCACAATAGTTTGCAGGAATTTTGGCCCATTCCTCCTGACAGAATTGGTGTAATAGAGTCAGATTTGTTGGCTGTCTTGCTCACACAAGCTTTTTCAACTTTTTCAATAGGATTGAGCTCGGGGCTTTGTGATGGCCACTCCAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa11256
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 |
---|---|---|---|---|---|
ENSDART00000110182 | Essential Splice Site | 817 | 850 | 17 | 18 |
Genomic Location (Zv9):
Chromosome 5 (position 60775644)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 5 | 58407771 |
GRCz11 | 5 | 59077480 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCAGCGAGCAGGTCCAGAGAGATTTYGTCAAACTGTCCCAGACCCTTCAG[G/A]TAAATGYATTTMACTAGAAATTAAACCACAGTTTCATTTCTACACGGTTT
Long Flanking Sequence:
GGAATTGGCTGAGGTGGAGTGACAACAAGCAGCAAGACCTAGCCATGCCCTTACTTATACAGACTTATTATGAAATGGATGAGTTATAAAAAAATTCACACAGTTGTCATGAAAAGTAATATTAGCATTTAACACTCAAAACGTTTTTAGTACCAGGTTTTAAACATCTTTTTTTTCTGCTGTAAAGTTGGCCTTGTAAACATTGGGGTCAATAGAAATGTGCTCTATTTTGGAGTTAGTCCTAGCGGAATTTCGATGAATTGCAGTTTCTTTTACTTCCACATTGGTTTTATGAGGGAGAGTGGGGTGTTGCCACTTGGTTTAAACATGTGAAGATGCAAACATCAAGTCACTGCGAATTTAAAAATGTGTGTTTGATGCAGAGTGCTTTGGAGACTCAGGTGTTTGAAGAGAAAGACAAATCACAGAGACTTCAGGCAGAGCTGGACGTCAGCGAGCAGGTCCAGAGAGATTTCGTCAAACTGTCCCAGACCCTTCAG[G/A]TAAATGCATTTCACTAGAAATTAAACCACAGTTTCATTTCTACACGGTTTGTCAGACAGTCCTGAGAGAGGATAGTATATCTGGCGTTACTTCTTTAGTTATTCTGCCAAATGGCTTCAAGCAAACTCGCATATAGACATTTGAAAACGTTTATTAATTATTTGTTAATTTAGTTATTAATAAGTGAATGATTTAGTTGTTACATTTCATTTTGAAAGACCAATTAAACCTTTTCTAATATGCTTGTTTGAAGTTAACGTGGTTCATCTACTGTATGTACACACTGTTTAAAAGTCTGATTTTAGATAGATGTTTGTTTCTTTGTTTTTATTTTTTAAGGTTACTTTTAATTAGATAATGCACCCTTGATTCTTAATTTTGAGGAACATAATTTGAAGTTAAAAAAGGAAATAAATTGCAATATATTACTAAATATCACAAAATAATTAAAATCGCAATGATATTGTATCGTGAAATGAGTATCATGATCATATTGTACC
Associated Phenotype:
Not determined