ZMP
REPS2
Ensembl ID:
Description:
RALBP1 associated Eps domain containing 2 [Source:HGNC Symbol;Acc:9963]
Human Orthologue:
REPS2
Human Description:
RALBP1 associated Eps domain containing 2 [Source:HGNC Symbol;Acc:9963]
Mouse Orthologue:
Reps2
Mouse Description:
RALBP1 associated Eps domain containing protein 2 Gene [Source:MGI Symbol;Acc:MGI:2663511]
Alleles
There are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa24405 | Nonsense | Available for shipment | Available now |
sa32466 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa24405
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 |
---|---|---|---|---|---|
ENSDART00000115161 | Nonsense | 18 | 656 | 1 | 19 |
Genomic Location (Zv9):
Chromosome 23 (position 41183018)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 41015872 |
GRCz11 | 23 | 40908776 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGATCCGGGATCCGCCGGTGGGACCTTCATGTCCCTGAGCGACACCGAG[C/T]AGAGATGTTACTCCGGGCTGTACGCGCTCTGTCAGCCCGACAGCAGCGGC
Long Flanking Sequence:
AAAGTAAATAAGGATATGTTAACTGTCAGTATACTGTAAAGAATAATGATAGCCTATATGATACATGATACAATAATGATGTTTATCAATAAAACAAATAACATTAATATATACATAATAACACACAATGAACACAAAATTAATAAAACATATAAACGTAATGTCTATAAATATTGAACACTCGTTGCCTAATTAAACCTTTCTAATGTACGTCTTTGTAATGTACACATAAATTTATATGCGTGTGTAATATAAAAATGGTCCTCATATAAATATTTAAGCAGGTGTGTGCAGTTTTGTGTGGTTATTTGGCGCCTCTGTGCGGTCAGAAGTGATACTGGGAGTATCAGCAGTGTGTGTGCGTGTGTCTGTGTGAGCACCGCAGAGCAGACGCACAGAGAGGCCGCTTGTCAGGTCTGGACGCCCGGCGGCTGCGGCTCGGGGCGGGGATGGATCCGGGATCCGCCGGTGGGACCTTCATGTCCCTGAGCGACACCGAG[C/T]AGAGATGTTACTCCGGGCTGTACGCGCTCTGTCAGCCCGACAGCAGCGGCATACCGGCGGCGGGGAAAGTGGCGGAGCTGTTCCGGGCGTCGCAGCTGCCGGCCGAGACGCTGCACCAGGTGAGCGGACACGCATTTCACCGCCGCCCCGCAGAGGAGCGCGTGTGCCGGGGAGCGGGTTCACACTCCCGCCGGGGATGGGTGTACAGTATAAGGCTCTCATAACTACATGTACAGTACGGGGCTCTGATATACGCATGGCTCTTGTTCATGAGTATACAGTTTGGGGCTCTAATTTATGGTTGTTTGGGGCTATCATTTCTGGCTGCATAGTAGGCTATATTAATTATAATGTACAGTATATATAATTGTACAATGAATGTACAATGAAAAACAATATTTTTCTTAAATTATGTTATTAAGGAGCATTTATTAAGTATGAATGTGCGAATATAAAACCAACTTTGCCTCAATGGGTGTACAGTATGTAGCTCTGGTTCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32466
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 |
---|---|---|---|---|---|
ENSDART00000115161 | Nonsense | 561 | 656 | 17 | 19 |
Genomic Location (Zv9):
Chromosome 23 (position 41262371)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 41095086 |
GRCz11 | 23 | 40986763 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTCTCTCTTTTAACATGTAAACTTCTTACCAGGATTGTTCGTTGGTACAC[C/T]AGGGCCACGCCCCTCAGAAGCCAATGCGGAGAAAACTCCACCCAGAAAGT
Long Flanking Sequence:
CTTTTATTCTAGCCAAAATAAAACAAGTAAGACTTTCTTCAGAAGAAAAAAAAATATTACAGGAAATACTGTGAAAAATCATTTGGGAAATATGAAAAAAGAAAAAAAATCACAGAAGGGGCGAATAATTCAGACTTTCAGACTGAAACATCATGGGATGGGATTAATAATCAATGTCACACATTTGCTTTGTAAATCTATCACTGAACTGAACTATCATTGTCTTCCAGCAGGAGAGCGGTGTGAGAGCAGGTCTGAGCACAGAGGATCTGCTGCCTCCCAAATCAGTAAGATCAAATCAAACCGTCCCATTAAACAGCACCAAACACTTTATGTTAGCCCCTTTAAAACAGTCACATATCGCACCCACTGCATCTTCTGCTTATCTTCCGTAATAATGTTTTTAGGACATCTTTTATTTACCCATATGAACGTTTCTCTTCAAGTCTTGTCTCTCTTTTAACATGTAAACTTCTTACCAGGATTGTTCGTTGGTACAC[C/T]AGGGCCACGCCCCTCAGAAGCCAATGCGGAGAAAACTCCACCCAGAAAGTCAGAGTGCCACGCCCCCATTGACCACGCCCTACTCTGCTGCCACACTCACCAAACCTACACAGAGGTCCTTTATCCTGTCTGTCTGTCTGTCTGNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNTATATATATATATTTTTTTTTTTTTTGTTTGTATTTATATATATATATATATATATATTTTTTTTTTTTTTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAGCTTAAATTATTTATAAATAAACAAAATAAATAAAAGTAAATGTGTAACATTATACTTTATAATAACATAATAGTAATTACTGGTATATAACAGTGGCAATTTTCTTA
Associated Phenotype:
Not determined