CHD1

Ensembl ID:
ENSDARG00000014878
Description:
chromodomain helicase DNA binding protein 1 [Source:HGNC Symbol;Acc:1915]
Human Orthologue:
CHD1
Human Description:
chromodomain helicase DNA binding protein 1 [Source:HGNC Symbol;Acc:1915]
Mouse Orthologue:
Chd1
Mouse Description:
chromodomain helicase DNA binding protein 1 Gene [Source:MGI Symbol;Acc:MGI:88393]

Alleles

There are 6 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa4361 Essential Splice Site Mutation detected in F1 DNA During 2014
sa3765 Nonsense Mutation detected in F1 DNA During 2014
sa21667 Nonsense Mutation detected in F1 DNA During 2014
sa2580 Essential Splice Site Mutation detected in F1 DNA During 2014
sa18978 Essential Splice Site Mutation detected in F1 DNA During 2014
sa5826 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa4361
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085727 Essential Splice Site 587 1778 12 36
Genomic Location:
Chromosome 10 (position 8541546)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GAAGTTGAACATTCTTCTGACTACATATGAAATTCTGCTGAAGGATAAGG[T/C]ATAATTCAAGCCAAATTCATCTTTTRAAACACTGAGAAACTTATTTTAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa3765
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085727 Nonsense 711 1778 14 36
Genomic Location:
Chromosome 10 (position 8544582)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTGCCAAGGTGGAACAGATCCTCCGGGTGGAGATGAGCGCGGTTCAGAAA[C/T]AATACTACAAGTAAGACAACCACATTCATATAGAMTACAGTACAGAGAGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21667
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085727 Nonsense 846 1778 18 36
Genomic Location:
Chromosome 10 (position 8551589)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GAAAACGTGAAATTTGTTGACGTGATTTCTTTGACTTTGCAGGATTTCTG[T/A]TTCCTGTTGTCCACACGAGCGGGTGGTCTGGGCATTAACCTGGCCTCTGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa2580
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085727 Essential Splice Site 1007 1778 21 36
ENSDART00000085727 Essential Splice Site 1007 1778 21 36
Genomic Location:
Chromosome 10 (position 8557413)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGACCCAGGACCATCGACTGTAGGAGAAGAGCTGCTCTCACAGTTTAAGG[T/A]ATTTTCTGGCRTTTAAAACRTATTATTAATGATACGTTGGACTTTCAGTY
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18978
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085727 Essential Splice Site 1007 1778 21 36
ENSDART00000085727 Essential Splice Site 1007 1778 21 36
Genomic Location:
Chromosome 10 (position 8557413)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGACCCAGGACCATCGACTGTAGGAGAAGAGCTGCTCTCACAGTTTAAGG[T/A]ATTTTCTGGCATTTAAAACGTATTATTAATGATACGTTGGACTTTCAGTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa5826
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085727 Nonsense 1577 1778 33 36
Genomic Location:
Chromosome 10 (position 8579660)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AATTCGATGCAAGGAAACTGCATAAACTGTAYAAGCACGCTATYAAGAAA[C/T]GACAAGAAAATGCTCAGGTATGAACACATTATTATTTTTACATTTCTGTT
Associated Phenotype:
Not determined

GWAS

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

  • Renal sinus fat : Heritability and genome-wide association analysis of renal sinus fat accumulation in the Framingham Heart Study. (View Study)

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

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/go5wygxu