ZMP
NP_001184253.1
Ensembl ID:
Description:
ATP-dependent RNA helicase DDX1 [Source:RefSeq peptide;Acc:NP_001184253]
Human Orthologue:
DDX1
Human Description:
DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 [Source:HGNC Symbol;Acc:2734]
Mouse Orthologue:
Ddx1
Mouse Description:
DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 Gene [Source:MGI Symbol;Acc:MGI:2144727]
Alleles
There are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa45708 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa16316 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa45708
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000023963 | Nonsense | 15 | 740 | 2 | 26 |
ENSDART00000131785 | None | None | 496 | None | 15 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 20 (position 33214248)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 20 | 33272488 |
GRCz11 | 20 | 33175367 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATATCTTATTGTTTTGCCTTACAGAAATGGGAGTGATGCCAGAAATTGCA[C/T]AGGCGGTGGAAGAAATGGACTGGCTGTGAGTTCTAATGATCTTACATCAT
Long Flanking Sequence:
CTCCTCGTCTTCTAGAATAATATCACCTGCCATGTTTTCAATGAACTAACGTTAGAGAGCGCACACGTCAAACTACGGCGGCCTGCGAGGTACAAATAAAAAGACTGCTTATGCTTGTATTTAATGCTTCGGGTTCTCCGTAGGTTGTTTTGTTATAGTATCTCTAACTAATTTTGTTATATTTATTTATTTGTCGCGAAAGACGCTACAATAAACAGTCTACGTTTCCTATTATTAAAATAAGATAAGCGGAACAGATGCGGGAAAGCGTGTTCCGCACGGGTCGTTTCTAACTTGTACCCTGTCAAAACTAGCTTACGCCACTTCCGGTGAAGAGGCTCGCAGGAGTTTGACACCATGGCAGCATTCGGCGGTGAGATTTATCTGTCAACGTATTTGTGAGACCTATAAGAATAAGGATTTAATAAAACGCCGAATGTCTGTGAACCTATATCTTATTGTTTTGCCTTACAGAAATGGGAGTGATGCCAGAAATTGCA[C/T]AGGCGGTGGAAGAAATGGACTGGCTGTGAGTTCTAATGATCTTACATCATAATGTGTATTATTAATATATTTGTTATGCTTGTATAAATTAAGTAGATGACGGTTTGATGGTCACTTTTAGGTTGCCAACGGACATTCAGGCCGAATCCATTCCACTGATTCTGGGTGGAGGAGACGTGCTCATGGTGAGATCTGATATGCATTGCAAATCAATGAGGTAGAGTTGGGTTTATATTCGCACATTCATTCAGTGACAACCGTCCCTATATGGTTTACCATGGTACTTTGGATATTCAGTCTGAAGTCGCATGTAAGTATGACTATAATAAATAACTAACAACTATGTGACAGAACAATGTTGTACTTTAATGGTCATTGGCTGCTTATGTAATTTCCCTATTTAGAATTTGCAAAGAATATTTTTCTAAAATATATATTATATTATAATAATTATATTATATTGAGAGCCCAAATCCCTGAACATAAAACCAACTTTTACA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16316
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 |
---|---|---|---|---|---|
ENSDART00000023963 | Essential Splice Site | 209 | 740 | None | 26 |
ENSDART00000131785 | None | None | 496 | None | 15 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 20 (position 33217350)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 20 | 33275590 |
GRCz11 | 20 | 33178469 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GGATGCTACATAGATCTGGAAAAAGGCCATGTGTCATTCTCCAAAAATGG[T/C]AGGGTTCTGWTTAGTTTTAGTAAATAAAACTTTTTCTTTTYAAAATTCAG
Long Flanking Sequence:
AAGGTTTAAAATAGATATATTTTAAAAAAAAAATTTTTTTTTGTCTAGTCCTGAAAAGTTATTTTACATTACTTTCCCCCCTAGGGAGGTATTATTATGAAGTTGCCTGTCACGATCAAGGGCTGTGCAGGGTGGGCTGGTCCACTGCCCAGGCATCACTGGACTTGGGTATGTTTCATCATGATCTCATTTCTATGATCTACTAATTCAATGATCTAGTTATGTCATCCCTTTAGTAAATGTATTGTTTTTTATTCTGTTTTCCTCTTTCTTAGGAACTGATAAATATGGATTTGGCTTTGGAGGAACTGGAAAGAAATCTCACAATAAGCAGTTTGATAGTTATGGAGAAGTACGATATAACAGAGGCATTTTATTTGACTCAAATTTTAGTACGTTGATAATGATTTAATTTTACCCCCTCAGGAGTTCACAATGCACGACACTATCGGATGCTACATAGATCTGGAAAAAGGCCATGTGTCATTCTCCAAAAATGG[T/C]AGGGTTCTGTTTAGTTTTAGTAAATAAAACTTTTTCTTTTCAAAATTCAGTCTCTTGTTGCACTCTGCCACTATGTAGAGCTATGCAGAGTTAGAGATGGTATTCAGATCATTTATATTAATTTAGAAAATTACAGAGTTAAGCACACTACTGAATACCAGATACAGATAATTCATAAAAGTAACAGACAGACAGACAGACAGACAGACAGACCGACCGACCGACAGATAGATACAGACAGACACAGGCAGAGTATGATATAGATAGTCATTATGTAATAGAGAGAGAAAGCATATCAAACTGCAAATGTTTATTTAGGTTAAATTGACACCACATACTTTTTCTATATTTACTTATTATTATATGGAAAAAATTACACTCAATCATGACATGAACCAGAATTCTGTTTGATGATGATAATAATAACAGTACATCTTTATGGAAATAAAGTTTTGACATCACATGAATAAATGTACATGAAGTACATTTAAAATGTATTA
Associated Phenotype:
Not determined