ZMP
DDX47 (2 of 2)
Ensembl ID:
Description:
DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 [Source:HGNC Symbol;Acc:18682]
Human Orthologue:
DDX47
Human Description:
DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 [Source:HGNC Symbol;Acc:18682]
Mouse Orthologue:
Ddx47
Mouse Description:
DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 Gene [Source:MGI Symbol;Acc:MGI:1915005]
Alleles
There is 1 allele of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa7543 | Missense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa7543
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:
Missense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000123780 | Missense | 38 | 130 | 1 | 3 |
Genomic Location (Zv9):
Chromosome 3 (position 2139360)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 3 | 1581325 |
GRCz11 | 3 | 1378758 |
KASP Assay ID:
554-4010.1 (used for ordering genotyping assays)
KASP Sequence:
CCACCGTGTGGGCCGCACCGCCAGAGCAGGGAGGTCTGGGAAGTCCATCA[C/T]GTTCGTCACACAGTCAGTGTCTCTGTGTTTATTCTCTGATGTCGCCCCCT
Long Flanking Sequence:
CTGTGTGCTGTTATAACTGCTGGAGTGGCGTCTGTGTGCTGTTATAACTGCTGGAGTCATGTCTGTGTGCTGTTATAACTGCTGGAGTCATGTCTGTGTGCTGTTATAACTGCTGGAGTCGCGTCTGTGTGCTGTTATAACTGCTGGAGTGGCGTCTGTGTGCTGTTATAACTGCTGGAGTCATGTCTGTGTGCTGTTATAACTGCTGGAGTGGCGTCTGTGTGCTGTTATAACTGCTGGAGTCATGTCTGTGTGCTGTTATAACTGCTGGAGTGGCGTCTGTGTGCTGTTATAACTGCTGGAGTCGCGTCTGTGTGCTGTTATAACTGCTGGAGTGGCGTCTGTGTGCTGTTATAACTGCTGGAGTCGCGTCTGTGTGCTGTTATAACTGCTGGAGTGGCGTCTGTGTGCTGTTATAACTGCTGGAGTCTGTTCTCTGCAGGATTATATCCACCGTGTGGGCCGCACCGCCAGAGCAGGGAGGTCTGGGAAGTCCATCA[C/T]GTTCGTCACACAGTCAGTGTCTCTGTGTTTATTCTCTGATGTCGCCCCCTTGTGGAGCAGCACAGACTGGAATATTTCTCCACCTGTTTGTGTTGATCCCCATCTCAGAGCTGCTGTGCGTGTGTGTGTGTGTGCGTGCGTGCGTGCGTGCGTGCGTGCGTGTGTGTGTGTGCGTGCGTGTATGTGTGTGTGCAGGTATGATGTGGAGCTCTTCCAGCGGATTGAAGCGCTGATTGGCAAGAAACTTCCTGCTTTCCCGACACAGGAAGAGGAAGTGATGATGCTGGTGGAGCGAGTGAGCGAAGCGCAGCGGTTCGCACGGATAGTACGTACACAACCTGTGTGTGTTGTGCTGGTGTGTGTGTGTTCTGCTCATTCATGTTGTGCTGATGTGCGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTTCAGGAAATGAAGGAGAGCTCTGAGAAGAGGAAGCGGCCGAGTGCAGCACAGGAAGTGGATGAAGACGGTGAGCA
Associated Phenotype:
Not determined