ZMP
atp7a
Ensembl ID:
ZFIN ID:
Description:
copper-transporting ATPase 1 [Source:RefSeq peptide;Acc:NP_001036185]
Human Orthologue:
ATP7A
Human Description:
ATPase, Cu++ transporting, alpha polypeptide [Source:HGNC Symbol;Acc:869]
Mouse Orthologue:
Atp7a
Mouse Description:
ATPase, Cu++ transporting, alpha polypeptide Gene [Source:MGI Symbol;Acc:MGI:99400]
Alleles
There are 8 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa35686 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa42389 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa17337 | Nonsense | Available for shipment | Available now |
| sa35687 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa38992 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa22467 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa35686
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000054977 | Essential Splice Site | None | 1500 | 1 | 23 |
| ENSDART00000124072 | None | None | 1483 | None | 22 |
| ENSDART00000128097 | Essential Splice Site | None | 208 | 1 | 3 |
Genomic Location (Zv9):
Chromosome 14 (position 23400657)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 14 | 22100447 |
| GRCz11 | 14 | 22397692 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGATTAAACTTGTTGGTCCTGTGACTCAGCATCAGCTCTTCGCACGAAAG[G/A]TAAAACAATCCAGCAGTTTTGTTGTTCTTCGTGTCTGTGGTTTAAGTTAG
Long Flanking Sequence:
CTATTAAAATACTATCTGATAAATCTCAAGCCCCCTATTCAAAGCTCCAAACAGCTCCAAAAATACGCATTACTGAAGCTCTTGAATCTGCCACGACGACATTCGAGACTGCGCATTTGGCAGCGGTTGATGATGTGCTCGAACACACTAGGAACGTTGCGGAGCGTGCGCCCGAGCTACATCGAGATAGCAAACATTCCGCATGGATTTAACACTCTTCAGCGTGACTTCTGTAAGCACACACTCTCCTGCTGTCTCCACACACTACACACGGCTGGGTTTTGTCCGATGGGGGCAACCAACCCCATAGGTTTTAAGGAAGCGAGGACTTACTGGCTGCTGGAGACTAACAAAGTGTTTGTTAGCCAGCTAACGTTAAGTTAACTGCTGTCATTGTGAAAGTGACAGTAAAACTTACCAAACTTAACTAGTGACAACAGCGTCCTATGAGGATTAAACTTGTTGGTCCTGTGACTCAGCATCAGCTCTTCGCACGAAAG[G/A]TAAAACAATCCAGCAGTTTTGTTGTTCTTCGTGTCTGTGGTTTAAGTTAGCTTTAGGCTCAAAAGCAAACATCTCACATCTGCATCAAAGGAATCTTTCTGAGAACGTTATTTTTAGAGTAACGTTAAATGCCTGTTTCTAACTGATGACACCTTAAAATTTCAGTTCTTTAATAAATTGGATATCATTAAACACTTAATGTATTGATCATGGGGTTATTATTATATATAAACTCTCCAAGCGATAGAGATGAACGTTAGCTGCATATATAATAAAGCTAATCTCTATTGCTTGGAGAGTTTATATTAGCTGATGATGTAATGTATAATAGGGCTAACGTTAATCCATTCGTTTTTGCGATGAGCAAAACGTTTGTTACTGTTTTTTTTATGTGTCTTTGTTGACGTTAATTAATACAAATACAATTGTCCATTCAATGTTTATGTTCTGGTATGGTTTATTAAATGTGGTAGTTTAATAATTGTTTTGTGAATGACGCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa42389
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000054977 | Essential Splice Site | 40 | 1500 | 2 | 23 |
| ENSDART00000124072 | Essential Splice Site | 41 | 1483 | 1 | 22 |
| ENSDART00000128097 | Essential Splice Site | 40 | 208 | 2 | 3 |
Genomic Location (Zv9):
Chromosome 14 (position 23403581)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 14 | 22103371 |
| GRCz11 | 14 | 22400616 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGTCCATTGAAGGCCGGATCGGAGGCCTGCCAGGAGTCATTCATATACAG[G/A]TTAGAGATATGGATGTCAGTTACACCAAGTGAACTCTTAAGAATAAACCT
Long Flanking Sequence:
CTCACAGTTATGACAAATAAAGTAGCAGTTCTGAGAAAACAAAGTTAAAATTGTGAGATATAAAAGTCAATGTTTGTATAAAACTATGGTGATTGATATATTCTAATTTATGTTTATGTTGTAATTAAAGTGTAATTAAAATGCATCAGTAACATTTAACGCGTTAAGTTTAAACAGCCTCATTTTTATCTACAGGATAACAGACTTGGCCGTGGAAAAAAATGAGTTGAAAGTTGAAAGAAAAAGCTAAAATACCCTTAAAATTAAAATGACTGATTGTGGGTCATAAAGCTGTGTGTTTATCCAGTGATTAACACTTGTATGTCAGTTTGCACATCTGTCTGTAAATCCCCTCATGTTTTTCATCTTTCAGACGAAGAATGGCGCTGAGCACTAACCTGTGTCGTGTGACCCTGGGGGTTGAGGGCATGACCTGTGGCTCCTGTGTACAGTCCATTGAAGGCCGGATCGGAGGCCTGCCAGGAGTCATTCATATACAG[G/A]TTAGAGATATGGATGTCAGTTACACCAAGTGAACTCTTAAGAATAAACCTATGTTAGAATGCATCATTCAAAGTGCTGTTCAAGCATTTTTCAGGGATTTTGGTTAGCTTTTTTATTTTATTATTATTTTATTTTTTGATGTTTTGCAAGATGAGCTTAAACAGGGGGGGCTAATAATTCTGACTTAACAGAATTAACACATTTCAAATCACCCTTTTCAGCTTTTGAACTTTTGTAGAGTTACTGAAGTTTGCCCTGCGCGCTTGCGTTTTTTTTAGTTACTTCTTTGGTTTGGTGCGTCAATCTTATCAATGCTATTATTAAAAAAAAGGTAATGATTCACACTCAATTGCTTTGTACTGTTTTTATTTTTTATTTTTCTTACATTTTACGGGTGATTAAAAGACAGACGTTTCGGCACAAAGCCTTCCTCAGTGTGTGACACAATTCTTCAACTCCACCCTTTTATCTCATAGTCAATTACAATGTGCAATTAATTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17337
Status:
Available for shipment
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:
Mutation:
T > G
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000054977 | Nonsense | 680 | 1500 | 9 | 23 |
| ENSDART00000124072 | Nonsense | 681 | 1483 | 8 | 22 |
| ENSDART00000128097 | None | None | 208 | None | 3 |
Genomic Location (Zv9):
Chromosome 14 (position 23423574)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 14 | 22123364 |
| GRCz11 | 14 | 22420609 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GACAAGYATCATCAANNNCATAACGCCACCGCTGAGGACAGAGCGAAATA[T/G]CACTCCACAATGTTYCTGGAGAAACAGCTTCTGCCAGGCCTCTCCATCAT
Long Flanking Sequence:
AGCTCTGTATGAGTCTAAATTTTCAATCATAGTGGTCCTAAAAATATCTTTAAAAGTCTTAAATTTAACTTGGTGAAACCTGCAGAAACCTTGAACTGAATTAAGCTGACACCCAATCAGTCATCAGCAATCCATCTTAATAGAACTTTAACAAAACTTATATTTATTTACTCTTTTTACCAATATGGTTTAATTCTCTTCCTTGAAAGTAATGGAATTTTATATTTAGAATCGAGTGGGAACCCAGTAGCTTAAAATCTTTACTACACCCTCACTGCACCTGTAATGCCCTAAAATAGGGCAGCATACAGGGTAGCAGAACAGAAATAATACTGTCTTTGATTTTGTTTGTTTGTTCTCAGGTGGAAAAGATCATTCCAGATCAGTCTGTTTTTCTGTGTGCCGGTTATGGGCATGATGATCTACATGATAGTTGTGGATCACATGATCGACAAGTATCATCAACATCATAACGCCACCGCTGAGGACAGAGCGAAATA[T/G]CACTCCACAATGTTTCTGGAGAAACAGCTTCTGCCAGGCCTCTCCATCATGAACCTCATCTCGTTTCTCTTCTGTGTTCCTGTGCAGGTTGGTTTACTGCAAGTTTCAATTTCTTTGTTTAAATTGTTCAGTTCTGCACGAAAGATCTCTTTGTTTTTAGTGACTATACCGGTTTTGTCTGTCTGCAGTTTATCGGCGGGAGGTATTTTTACTGTCAAGCCTACAAAGCTGTCAAGCACCGGACGGCCAATATGGATGTTCTGATTGTTCTTGCTACAACAATTGCCTTCACGTATTCAGTGGTGGTTCTTCTGGTTGCCATGGTCGAGAGGGCAAAGGTCAACCCCATCACCTTCTTTGATACTCCGCCAATGCTGTTTGTGTTCATCTCGCTGGGCCGCTGGCTGGAGCAGATAGCAAAGGTGAACAAACATTTCCATAAGTTATTCACACTACACCTCGTGTAAGAGCTGCTTGTACATTACACTAACATCATTTGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa35687
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:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000054977 | Nonsense | 917 | 1500 | 14 | 23 |
| ENSDART00000124072 | Nonsense | 918 | 1483 | 13 | 22 |
| ENSDART00000128097 | None | None | 208 | None | 3 |
Genomic Location (Zv9):
Chromosome 14 (position 23430974)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 14 | 22130764 |
| GRCz11 | 14 | 22428009 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTGGTCTAAATAAACTTTTTTCATTTAACGATTTCAGGCTCCCATCCAG[C/T]AGTTTGCAGATAAAATCAGTAGCTACTTTGTCCCGTTCATCGTTGTGATC
Long Flanking Sequence:
TGAACAGGAGGGCTAATAATTATGTTAGTAAAATTTATATACAATATGTTTTTTGAACATTTTATTCATCAAACTTTACAAAACTGTATAATGGTTTCTGCTAACATTAAAACCAGTACAATCTATTTTTTAACATTGACAAATATTTTTAAAAAGCTATAAAAATGGGACCCATAAATGTGTAAATGTAACTGTAAAAGTAATAATAAAGCTATTAAAACAATAAAATACATTTTTTATGTTTACCGTGAACATGATGTAACCAAGATAAAACCCCCCCTCATTATCTGGTTATGAAAGTTAAAGAAATGCATGCATTATTGTACAAAGCTGACTTCAATTATTTTAATCTTAAGTTTTTTAAATGGAAGGAAACATTTATCTGTTTTTGAAAAAATATTTGTTTGTGTATTTGTTCAGTACACTGAATCAACTAAATCTAACCTTAACTTTGGTCTAAATAAACTTTTTTCATTTAACGATTTCAGGCTCCCATCCAG[C/T]AGTTTGCAGATAAAATCAGTAGCTACTTTGTCCCGTTCATCGTTGTGATCTCCGTTCTGACTCTCTTGGCCTGGATTATCATTGGCTTTGTGAACTTTTCGCTTGTGCAGACGTATTTCCCAGTAAGTGAAGCCTGTCTTACATGAGTGCTTAAATGGAACATTCACCCACAAATGAAAATTCTGTCATCATTTACTCAGCCTCCATTTGTTCTTAAAAGATTCATTTCTTTCTTCTTTTGAACACAAAGAAAGATATGCTGAACAACGTTGGGAGAAAAAAGCAGCTATTGATTTCCATTGTGTTTTGTTCCTACTGTGGATATCAAAGATTTTTATCACCAAAATTTTTTTAAATGTCTTTTTTGTGTTCAACAGAAGAAAGAAATTCATAAAAGTTTGGAACCTGTGTGAGTTCGAGGAAATTAAAATACTTTCATTTTTAGGGTAACTATCCCTTTAGGCCTGAAAGTATCCGTATAAAATTTTTTTTTTTTTTTC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa38992
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:
G > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000054977 | Nonsense | 1088 | 1500 | 17 | 23 |
| ENSDART00000124072 | Nonsense | 1089 | 1483 | 16 | 22 |
| ENSDART00000128097 | None | None | 208 | None | 3 |
Genomic Location (Zv9):
Chromosome 14 (position 23434638)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 14 | 22134428 |
| GRCz11 | 14 | 22431673 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTGGCATTTGGATTCACAAAGCGTCTTCTGTGTTTAGGAGTTGGGGACA[G/T]AGTCTCTTGGCACTTGCACAGATTTTCAAGCTGTGCCAGGTTGTGGGATC
Long Flanking Sequence:
GATGTGGACAAATGTGTAGGTACTCTTCAGTTTTGTCTAGGCCAGTTTCATTAGTTTGCCTTTTTAATGATTCTGTTGAAAGGCAATTCAAACTAAATGTCTTGATTTCATTACTTTATTTTTTAGCAATTTTTGATTAATCATTACATTTCTAAAAATATTTTATACAATGTAGTCATTATAGATATATTTATACACACAAAAATATACACAGGATGCACAAAAATATTTTGCATGTAATTAATCACAATTAATTGTTTGACAAATGCAGCGATAGGCATTCATTTACAAAATCTTACAGAACCCAAACATTTGAGTGGTAGTTTATGTAAAAAAATATGCCAGTGCCATATTTTGTCAGTACAGCATTTTTTAGGGTGTTTCATTAATATTTTTACATTAGTTTTTGTATTAGAGCTCATCATGCTTTGAATTACATGAAAATCTATATTTGGCATTTGGATTCACAAAGCGTCTTCTGTGTTTAGGAGTTGGGGACA[G/T]AGTCTCTTGGCACTTGCACAGATTTTCAAGCTGTGCCAGGTTGTGGGATCAGGTGTTTGGTCAGTAACACAGAAAACCTGCTGAAGAGGGAGGACAGCGACAGTGAGGAGAACCAGCACAATGCTGTGTTGATCCAGATCAGTGATGCCAGAGCACACAGCACTGAACACCCACTCATCATGGACCCGCAGCCACTCAGTCAGTGTCACCATTGCAGAAATACTGAGAATGAAATTCTGAAATGTTATTGTCGCAGTGTGGTGCTTGATCCTGAATGGCTGAGTTAATTGTACTGTGTGTGTGTTTTGTTATTTCAGCTGTAGTTCAGACGGCCTCATACACAGTGCTGATAGGGAACAGAGAGTGGATGAGGAGGAATGCGCTGCAGGTGCGAGCAGATGTAGATGAAGCCATGACAGAGCATGAGAGGAGAGGGTGCACCGCTGTGCTGGTGGCTGTGGACAGTAAGTGTGTGACAGGGTTACTTCAGACCTAAGCAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa22467
Status:
Available for shipment
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:
Mutation:
G > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000054977 | Nonsense | 1498 | 1500 | 23 | 23 |
| ENSDART00000124072 | Nonsense | 1481 | 1483 | 22 | 22 |
| ENSDART00000128097 | None | None | 208 | None | 3 |
Genomic Location (Zv9):
Chromosome 14 (position 23442121)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 14 | 22141911 |
| GRCz11 | 14 | 22439156 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCGAACCCGACAAACACTCTCTACTGGTGGGAGACGATCACTGCGACAAC[G/T]AGATAGTCTGAGGGTCTCTGGAGCTTCGCTTTACCGCAGTGCCTGCAGTC
Long Flanking Sequence:
AGACACGATAAATTCAGTATCAGATTAGTAATAGATCATAACTGGTTTTTACGCACTGATGTCATTTATATCATATTGTGGTAGCTTATTATAGCGAGGGAGGTGAGCTTAAGTAATTAAAAAATGCAAAAAATGCAGAAACTGTGCTCAATTCACTGCGTGTATGTTTGTGGGTATTATCATTAATCAGCCAGTGCTTCTTTCCATATTATATAATACCGACTTTCTGTTTCTGCAGTTACACTAAACCCACTGTTGAGAAGCTAAAAAGACGACTGGGAGATGTGAGAACTCACGGCAGCCTGTCCGACGTCAGTGTTCACATCGGCATGGGAGAACTGCGTCGCCCCTCACCCAAACTCAGCCTGCTGGATCGTTTTGTCAACTACAGCCGAGCCTCCATCAACTCATTGCGATCCGACAAACACTCCATGAACAGCATGGCCCTCAGCGAACCCGACAAACACTCTCTACTGGTGGGAGACGATCACTGCGACAAC[G/T]AGATAGTCTGAGGGTCTCTGGAGCTTCGCTTTACCGCAGTGCCTGCAGTCCAGGAGGATCTAATGAGGGTCTTCCTGCTTCAGTGGCCCTTTGATTGTCCAGCCATTTACATACTTTCAGATGGCCTCCGTTTACATGGAAATGGATTGCATTTTACAGTAAGGTCTCATTTGTTGGCGTTAGTTATCGTGTACTCTACCACATGTCCTTCCAAAGGACTTTTATTTATCTTTGAAATACAAATGAAGAGATTTTTAATCAAATTGGAGAGATTTCTTTTTTTCTATTCCTCTGTTGCAAATCCTAAATCAGATGCTTCAAAACACAAATTAAGATGTTTAAGTCTTCTGAAGAGATATAATTGCGTTATTATTTGGACAGGTTTAATATCGGGAACATTGATCTGTGATCAAAAACCTGCTTGGCGTGAAAGAACTAACCTCATTAGTTTATTGTTGAAGCTTAGATGAGCCTCATTGGCTCTCATGCATCAAGCAAGC
Associated Phenotype:
Not determined