atp7b

Ensembl ID:
ENSDARG00000058145
Human Orthologue:
ATP7B
Human Description:
ATPase, Cu++ transporting, beta polypeptide [Source:HGNC Symbol;Acc:870]
Mouse Orthologue:
Atp7b
Mouse Description:
ATPase, Cu++ transporting, beta polypeptide Gene [Source:MGI Symbol;Acc:MGI:103297]

Alleles

There are 7 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa33814 Nonsense Mutation detected in F1 DNA During 2016
sa40636 Nonsense Mutation detected in F1 DNA During 2016
sa20647 Nonsense Available for shipment Available now
sa33815 Nonsense Mutation detected in F1 DNA During 2016
sa17744 Nonsense Available for shipment Available now
sa9976 Essential Splice Site Available for shipment Available now
sa40637 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa33814
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 2016.
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000030246 Nonsense 39 1364 1 21
Genomic Location (Zv9):
Chromosome 6 (position 10004831)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 9858638
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GTCGGCGGAGAGCAGCTCTGCATGAAGGACTGCAAACCCCTGTGCCACTG[C/A]GACCCGGAGCTCTGCGTTTGCTCTTTACCACAGAATAGTAAAGATGGACC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40636
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 2016.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000030246 Nonsense 134 1364 2 21
Genomic Location (Zv9):
Chromosome 6 (position 10007192)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 9860999
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGAAGAACAAATTGGTCGTCTTGAAGGTGTCATTGGAGTCCAGGTGTCTT[T/A]GAGCGATAAAGAAGCCATTTTGAGGTTTAACCCTGCAAAGGTAACACCAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20647
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
ENSDART00000030246 Nonsense 141 1364 2 21
Genomic Location (Zv9):
Chromosome 6 (position 10007213)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 9861020
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGAAGGTGTCATTGGAGTCCAGGTGTCTTTGAGCGATAAAGAAGCCATTT[T/A]GAGGTTTAACCCTGCAAAGGTAACACCAGAGGATATGAGAAAGCGTATTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa33815
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 2016.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000030246 Nonsense 282 1364 2 21
Genomic Location (Zv9):
Chromosome 6 (position 10007635)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 9861442
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CCCAGAGTGTCACCATTGGAATAGAAGGAATGACATGCAACTCTTGTGTT[C/T]AAGCCATTGAGGGGATGATGTCCCAGAGAGCTGGGGTATGCTCCATAAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17744
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
ENSDART00000030246 Nonsense 572 1364 7 21
Genomic Location (Zv9):
Chromosome 6 (position 10018473)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 9872280
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTKGGATCCCAGTGATKGGYCTGATGATCTACATGATGGTGATGGACAGT[C/T]AGCACAAGGAACATGGAGGCTCCATGCCTGCGGACCAGAACATCCTCCCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9976
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000030246 Essential Splice Site 757 1364 11 21
Genomic Location (Zv9):
Chromosome 6 (position 10024616)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 9878423
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTCAGTGGTTCAACTGTAAACATACAAAATCTKACATTATTTGTMATTTC[A/C]GGAGAGCCGATGCCGGTGATWAAGAAAGCAGGCAGTTGTGTGATCGCAGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40637
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 2016.
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000030246 Nonsense 855 1364 13 21
Genomic Location (Zv9):
Chromosome 6 (position 10027027)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 9880834
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGGTGTGTGTTAAAAATGCTTCTTATCTGTGTGTGATTTCTACAGGGTTA[C/A]AACCAAAACATCTCGCGAACAGAGGTGATCGTTCGCTTTGCCTTCCAGGC
Associated Phenotype:
Not determined

OMIM

More OMIM information for ATP7B

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