NP_001184253.1

Ensembl ID:
ENSDARG00000032117
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 is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa16316 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa16316
Current Status:
Available for shipment
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Availability:
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Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000023963 Essential Splice Site 209 740 None 26
ENSDART00000131785   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
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GGATGCTACATAGATCTGGAAAAAGGCCATGTGTCATTCTCCAAAAATGG[T/C]AGGGTTCTGWTTAGTTTTAGTAAATAAAACTTTTTCTTTTYAAAATTCAG
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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