ZMP
fxr1
Ensembl ID:
ZFIN IDs:
Description:
fragile X mental retardation syndrome-related protein 1 [Source:RefSeq peptide;Acc:NP_958458]
Human Orthologue:
FXR1
Human Description:
fragile X mental retardation, autosomal homolog 1 [Source:HGNC Symbol;Acc:4023]
Mouse Orthologue:
Fxr1
Mouse Description:
fragile X mental retardation gene 1, autosomal homolog Gene [Source:MGI Symbol;Acc:MGI:104860]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa24220 | Nonsense | Available for shipment | Available now |
sa24219 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa24220
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000104478 | Nonsense | 31 | 622 | 2 | 16 |
ENSDART00000104480 | Nonsense | 31 | 648 | 2 | 17 |
Genomic Location (Zv9):
Chromosome 22 (position 40547480)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 22 | 37626856 |
GRCz11 | 22 | 37561774 |
KASP Assay ID:
2261-7102.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTATTCCAGGGCTTTGTCAGAGACGTTCACGATGACTCGCTCTCCATTT[C/A]GTTCGAGAATAAGTGAGTAGAAGCAAACAGTTGAATTGTAATACAGTTTA
Long Flanking Sequence:
CATTTATAAACTGGTTAGATTTGTTTTCTTTGCATAAATGGATTTCTTTGGTTGTTACCAACATCCAGTTATGATTTCAAGTCAACAGCACCTTTAGAAATATGTTTTCTGAGGAAAAATGGTGATGTGTTCAATACTTATTTTCCCTGCTGTATGATCGGAGGCAAAATTCACAAGCATGTGCAATAGGATATATTCCAAATGTACCACAAAATCAAATCATAAACAATAGTAGCAAATATGATAACTAAGTATTTACCAAATAAACAGATACAAGAGTTTTAAGGGGCAAAATAATATAAAGAAATTTTCGTGATCCTTAACAATCAAGAAGTAAACAAATCAATAGATTGACGGAGGTAAGGAAAAGAGGGAAATATATCATCTATTAGTACTATTATTTACTTATTAGTTAGAATAAAGAATAAGCTAATAATCTGTGTAATTGTCTTTATTCCAGGGCTTTGTCAGAGACGTTCACGATGACTCGCTCTCCATTT[C/A]GTTCGAGAATAAGTGAGTAGAAGCAAACAGTTGAATTGTAATACAGTTTAAATGAGCAGATGAACATCATGATGTGGAAATGATTTTCTCAGCTGGCAGCCAGAGAGACAAGTGCCCTTCAGCGATGTTCGGTTACCGCCATCCGCAGACACCAAGAAGGAGATCGGGGAAGGAGAAGAGGTGGAGGTGAGCAAAAATACCTGTATCAGCAGCAGCAGCACTATGTGTTATTTCACTCTTAGACGCACTGCAAAGCTACTTAAAGGGATAGTTCATTTTAAAGGGATAGTTTAAAATAATATAATTTAATCACACTTGACTTGTTTTAAACCTGTTTGAGAATATATCTGTTGAACACAAAAGAAGATACTTTGAAGAATGTTGCAAACCAGTAACCATTGGTTTCTATAGTATTTGTTTTATCACTGTGGAAGTCAATGGTTACCGGTTTCCAGCATTCTTCAAAATATCTTTGCTGTTGCTTTAATATTTTAAAATCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa24219
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 |
---|---|---|---|---|---|
ENSDART00000104478 | Essential Splice Site | 557 | 622 | 14 | 16 |
ENSDART00000104480 | Essential Splice Site | 557 | 648 | 14 | 17 |
Genomic Location (Zv9):
Chromosome 22 (position 40536561)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 22 | 37615937 |
GRCz11 | 22 | 37550855 |
KASP Assay ID:
2261-7099.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GATGGCATGAGCGAGTCTGACAACGCCTCACTCAGCGAGAACGGCCTCGG[T/C]AAAAACAACTACAACACATTGATTTGATTTAGTCATTCTTTTGCAAGGAA
Long Flanking Sequence:
AAGAGGAAGTAGAGGAAGAGGAGCCTCCAACTCCATCAGCTCAGGTTTTACAGCCTTATCAAAAACTGTCTGCATGAAACAGGGGGCCGGTGTTCTGCATAGCTAGCTCTATATTTCTTCAACACCTGCCTGGAAGTTTCTAGTATAGACTGAACTTGATTACCGTTCAGGTGTGTCTAATTGGGGTTGGCTAAGCATAATTTTTAGATATTTGGACTAGAAACAAGACAAAACTTATCAAGTAAGAACAGCATTTTTGTTTGTAATGTGGTTATTAAGTGTGCTTGTTCTGTGTCAGTGCTGAAGGATCCGGACGGGAACCCGTATAGTCTGCTGGACAACACTGAGACAGACCAGACGGCCGATACTGATGGCAGTGAGTCTCAGATGAACACGAGCCGCCGCAGACGCTCTCGCCGTCGCCGCACCGATGAGGACACCACAGTCATGGATGGCATGAGCGAGTCTGACAACGCCTCACTCAGCGAGAACGGCCTCGG[T/C]AAAAACAACTACAACACATTGATTTGATTTAGTCATTCTTTTGCAAGGAAACGTAACTGTTTTGTCAGTTTAGTAGCTAATTCGTAAAATTCTGCACGGAAATATGTACAATATTATTTTAGTCATTCTTTTGCTCTGTAGTCTCTTGAGGAAACATAACCAACTATTTTACATTTTGTTAGTTTAGTGGCTAATTCATGCAAATTCATATAAGTTTAGAGAGATTAAGTCATTCTGTAGCTCCGGTTTCTGCAGCAGGATCTCATGGGGAAACGTATCTATTTTATGTTTTGTCAGTTTAGTGCCTAATTTGTACAAATTCTTACAAAAATATTATGATTTTATTCATTCTTTTGCTTTTTACACTCCAGCCTGATCTTGCGAGAAAACAACTGTTTTATGTTTTGTCAGTTTAGTGGCTAAATCATATGAATTTATAAAAGTTATGTTGTGCGAAAATTTACTATTCATTTAGTCTTTCTTTTGCTTTAGTCATATTC
Associated Phenotype:
Not determined