ZMP
LOC100330077
Ensembl ID:
Human Orthologue:
RUFY1
Human Description:
RUN and FYVE domain containing 1 [Source:HGNC Symbol;Acc:19760]
Mouse Orthologue:
Rufy1
Mouse Description:
RUN and FYVE domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:2429762]
Alleles
There are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa9055 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa9055
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
G > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000112082 | Nonsense | 13 | 697 | 1 | 17 |
Genomic Location (Zv9):
Chromosome 14 (position 7011253)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 14 | 6738221 |
GRCz11 | 14 | 7044948 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTTGACAGGCAAATATGGCGGACGARGATCCAAACACGAAAGTTGAAAGC[G/T]GAGACGTTCCTGCWAAAGAAGWAGAACCGGAGGTWACGGAAACCGGGCAA
Long Flanking Sequence:
ATTTATTTGGCCATTAATTAATTTATTTTTTTCATTCATTTATTCAGTAATTTTTATTTATTTAAAAAAATCTGGTTCACATTACATTCCAAAGCTGAAAGTTTTTATACAAATAAAAAAAATACTATTTTATATTTTAAATAAATGTTTTAAATATTGCCCATCCCTTTTATTGATTTAATTTATTTTACTTTAATTTTTTTATTTTGTTTTATTTTTGTTTTATTATTTTTTTTCTGGCTCAACTTACATTTCACAGCTGGAGATTTTGATGAAAACACAAATAACAAAATGTATTTATTTATTTATTTCAGTCAGTTATGTATCTACATTTCAAACTGATGTCTAAAAATACAGACCTGTGTTTCGGGAAGTGTATAAATCTGGTCGCCAATCGATTCGTCTCCCCTGAGTGATCAAATGCGATTGCTCTGGTCTCGAGTCACATGTTTTGACAGGCAAATATGGCGGACGAGGATCCAAACACGAAAGTTGAAAGC[G/T]GAGACGTTCCTGCAAAAGAAGAAGAACCGGAGGTAACGGAAACCGGGCAAGAAGATGTCGCCAACAACACCGACGAGCTCCAAAAGGACAGACCGGCAGACAGCTCTTGGTCGGCGCCGATTTTGTCGTTTGCTCGTAAAGCGACGGAGACGCTGAGCAGTGGAGTGAATCATTACAGCGCGGGGTTAAAGACACCTGACACAACACAACAACACTCCTCTGATCCGGTCAAGATAGCAGGTAAGACAGAATTGAGGTAAAGTCGGTTTTATATTCGCACATTCGTTCATTTTTAAACGGTGACAACTTGTGACATGCTTCCTAATATTGTTACCACGCTACTTTTAATACTCGGTCTAAAATAGCATGTAAATATGACTTCAAAAGAACATTAGCTCTGTTTAATTGACTGTGAACAATGTTATAGTTTGATATGCTTTACTTCTAATACTTTACTAAAATAGTATTATTAAGAAGGAAGTCTATAAACCAACTTTATC
Associated Phenotype:
Not determined