LOC556023

Ensembl ID:
ENSDARG00000087352
Human Orthologue:
DNAH2
Human Description:
dynein, axonemal, heavy chain 2 [Source:HGNC Symbol;Acc:2948]
Mouse Orthologue:
Dnahc2
Mouse Description:
dynein, axonemal, heavy chain 2 Gene [Source:MGI Symbol;Acc:MGI:107731]

Alleles

There are 10 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa20913 Nonsense Mutation detected in F1 DNA During 2014
sa9429 Nonsense Available for shipment Available now
sa8974 Nonsense Mutation detected in F1 DNA During 2014
sa18660 Nonsense Available for shipment Available now
sa14972 Essential Splice Site Available for shipment Available now
sa17948 Nonsense Available for shipment Available now
sa18040 Nonsense Available for shipment Available now
sa5407 Essential Splice Site F2 line generated During 2014
sa16702 Nonsense Available for shipment Available now
sa8266 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa20913
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
ENSDART00000128014 Nonsense 301 4506 6 87
Genomic Location:
Chromosome 7 (position 22513733)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATCTGGACAGCATTAGTACGCAGCTCCAAAAACCTGGAGTCCGTCATATA[C/T]AGGAAATTCTGCAGCTCTACACATCAACCTACATCCCACCCTTCTGTAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9429
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000128014 Nonsense 790 4506 15 87
Genomic Location:
Chromosome 7 (position 22562718)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CCTGTTTTCTGAGAGAATTCGCTTCYTGGATAAGAAAATTCAACCAGGCT[T/A]GTCGAAACTGCATTGRTCTACTAAAGGAACACCCAGCGCCTTTATCAATG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa8974
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:
G > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000128014 Nonsense 795 4506 15 87
Genomic Location:
Chromosome 7 (position 22562734)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATTCGCTTCYTGGATAAGAAAATTCAACCAGGCTWGTCGAAACTGCATTG[G/A]TCTACTAAAGGAACACCCAGCGCCTTTATCAATGACTGTAGAGTTCACGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18660
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000128014 Nonsense 902 4506 17 87
Genomic Location:
Chromosome 7 (position 22572417)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATTCAGCATGTCTGTGTGTGTTTTCAGGTGCAACAGCACTGGACGTCATA[C/A]ATGGAGAAGATAGACCARATGCTTGAAGAGGCGTTTCKTGTGAATATAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14972
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000128014 Essential Splice Site 1684 4506 31 87
Genomic Location:
Chromosome 7 (position 22639050)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GGGAGTTTGTTGACTTCACTCATCCTGTTCTTCTGGAGGGGCCAGTGGAG[G/A]TGGGTTTCAAACCTACATTACTTYAACAGCCTTTCTTGACGAAWGCACTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17948
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000128014 Nonsense 1948 4506 37 87
Genomic Location:
Chromosome 7 (position 22650351)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTGAKGAGTTTAACCGTATAAACATTGAGGTGCTGTCCGTGGTGGCTCAG[C/T]AGATTCTGTCGATCCTGTCTGCTCTGTCTGCGGGACTCAATAATTTCAGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18040
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000128014 Nonsense 2175 4506 41 87
Genomic Location:
Chromosome 7 (position 22669999)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGATTGTAGGAAAGACGGGCAGCGGCAAAACGGTCACATGGAGAACCCTT[C/T]AGAACACCCTCAGCACCTTGCACCGCAATGGAGAACCAGGATTCAACCTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa5407
Current Status:
F2 line generated
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:
A > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000128014 Essential Splice Site 2526 4506 49 87
Genomic Location:
Chromosome 7 (position 22700029)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TACATTCAAATGTTCTTATGTTCATATGTCCNTTTTTTCTGTGTTTATTTC[A/T]GACTAGCTCTAATAACGTGCAGGAGATCATTGAGTCTCGGGTGGAAAAGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16702
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000128014 Nonsense 3025 4506 59 87
Genomic Location:
Chromosome 7 (position 22729164)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CAAGGCTGCCACTTCATATCATTTCTCTGGTGGCTTCACAGATCCAGACY[A/T]AAGTTGCCAGTATCTTCGTCACCGTGCACCAGTCTGTGGCCCAGTTCTCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa8266
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 > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000128014 Nonsense 3642 4506 72 87
Genomic Location:
Chromosome 7 (position 22747065)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CACATTAGGCTATTTTCATGTGTACAGGTTGCTGAAYGAGGCGACCGGCT[C/A]GCTGCTGGATGACGTTCAGCTGGTGAATACYTTGCAGACCTCCAAAGTCA
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/tzqm196j