ZMP
LOC569603
Ensembl ID:
Human Orthologue:
HERC1
Human Description:
hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1
Mouse Orthologue:
Herc1
Mouse Description:
hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1
Alleles
There are 11 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa14578 | Essential Splice Site | Available for shipment | Available now |
sa20959 | Nonsense | Available for shipment | Available now |
sa14254 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa14578
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:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000109030 | Essential Splice Site | 337 | 4852 | 2 | 77 |
Genomic Location (Zv9):
Chromosome 7 (position 30607116)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 28999458 |
GRCz11 | 7 | 29270608 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGATGGCCTTTGTTCCTTATATGAAGCTGCACTTTGCCTGTTTGAGGAGG[T/G]AACATGGTTATAAATATGTAAAACAACTGTATAAAAACANNATTTTATTTTT
Long Flanking Sequence:
GTTCGCTTCCGCCGCTGTCTTTGGCCAACGAGAGTAAGATCCCTCCCATGGGTTTGGACTGCTTGGCTCAGGTCACTTCGTTTCTGAAAGGAGTGACCATGCGGAACTCTGGGGCTGATGTGGTGGGACGAAGGTTAGCGTGTGAGCTTCTGTTAGGCTTGGCGGCGCAACGAGGGTCTCTGAGGTACCTGCTGGAGTGGGTTGAGATGGCCCTCGCCGCATCAGCGGGAGTCAGCAGTCTGGAGCAGAGCCAGGAGGGGCTGATGGGATACGACTGCTTCATGAACATTCTGATGCAGATGAGACGATCACTGGTATGGTGCTGATTGAAACTCTCAAACACAGAAACCAATCTGCTTTCACAAATGATATTGTTAAACGACTGGTTGTGTGGTGATTTTAGGGTTCTTCTGCTGACCGGAGCCAGTGGAGAGAACCGACCCGCACTGCTGATGGCCTTTGTTCCTTATATGAAGCTGCACTTTGCCTGTTTGAGGAGG[T/G]AACATGGTTATAAATATGTAAAACAACTGTATAAAAACAATTTTATTTTTACTGTAAAAAGTACCATTTAAAGTGAAAGAAACAGAAACTAACATTCTGTATATCCTGAAAAAACATTAGGATATAAAGTAAAATGAACATTTACATTTTGCTGAAACCCACTTCTTAATTAATCTAGCAAATCTAAATAATGAGAGAATTTTAAAGTTATCTTAATTATTTTCAAATTTTCTGAATTCTTAACTTTTTCTTTAAAATTTGCCTTGCATTCTAAAACAATTGTCAGATGTTTTCCTTTCACTTCATTATCTTTTTATTACTGTTGTGAGCAATTCTTTTGTTCTCCTGAATCCAGTTTTCCAGTCTATTTTGCTGTATCAAAAAAATAGATTGTTTGAATGATAAATCATACCAGTTTTTATTTTAATTAATCAGTTGTCCTGATGTCACAGGTGTGCCGCATGGCCTCAGACTACTCAAGAACATGTGCGAGTCCGGAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa20959
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000109030 | Nonsense | 984 | 4852 | 14 | 77 |
Genomic Location (Zv9):
Chromosome 7 (position 30592669)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 28985011 |
GRCz11 | 7 | 29256161 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCATCTGATAGCAGCCAACCAGCACACCTCCATGAACTGCTCTGCTCTT[T/A]GCAGAAACAACTGCTGGCCTATTGCCACATCAACAGTGTTACAGAGGTAC
Long Flanking Sequence:
TCATTATTGTAGACTGAAGTAATTGACAGCTATGTTTTGTTCTATTGTTGGTAAGGGTTATAGGATTTGTGAATGGATATATCTGAAAAATAATAATAAAAATATAAAATCAAAAATTATCAAATGATTTAAATTTTAATATTTTTTTTTGATAAGTAAAAATCTTTTTTTAACTGGGATATTTGAAGAAATCCTTTGCATTTAGCCCTGTTAAAGTCAAAAATTTCATTCATAATGGTCTTAAAATTGTCTTTAAAAGTCTTAAATGTAACTTGGTGACACCTGTGGAAACTCTGCCTTTCAATCTTATGACCCAGTCTTAACATTGTAGCTATGTTGATGCCCAAGATCATCATCCTGCTCTTCAATATTTCTCTGTGTGTTAACTGGAAAGGACCAGGCGTTTGGAGAGCTGGAGAAGAACAGTGATAAGATCTTGCAGGGAACATCTTCATCTGATAGCAGCCAACCAGCACACCTCCATGAACTGCTCTGCTCTT[T/A]GCAGAAACAACTGCTGGCCTATTGCCACATCAACAGTGTTACAGAGGTACACACACACACACAAGCAAACACGCATTACCACATGTTCATTTGATTGAGTCTGAGAAGTCTGTGTGTTTTTCAGGGCTCCAGTAGTGTGGCACTTCTTCATAAACACCTGCAGTTGTTACTTCCTCACGCAACTGATATTTTCAATCGCTCTGCAACCCTTCTTAGAGAAAGCTCTGGGAATGGCAGCGTGCGTGAGAAGCTGCGGGGTATGCGAGTGCACACGTTCAAGCTTCACCCATTTAAATGTTAATGAACCTGCTAAATTTGCTTCTGTCTGGATGGTGTAGATGTGATCTACATGTCAGCAGCGGGCAGTATGCTGTGTCAGATTGTGACGTCGTTGCTGTTGTTGCCTGTTTGGGTGGCACGACCTCTGCTCAGCTTCCTCTTGGACCTGCTTCCCCCGCTGGACCGTCTCAACAAACTCCTGCCTGCAGCCACACCTCTAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14254
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000109030 | Essential Splice Site | 1730 | 4852 | 27 | 77 |
Genomic Location (Zv9):
Chromosome 7 (position 30575957)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 28968299 |
GRCz11 | 7 | 29239449 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTGTCAGTCACATTAGAAAGAGCCCTGCAAGCAAACAAACACCACATAGG[T/C]AATGGACTCAAACTCATACACTGYTTTGATTCAGGTACCATTTGCTATTA
Long Flanking Sequence:
ATGTTTCTTCAGATGACTTTCTTTGCTTTTAGCTGCAGCTTTTTCTGTTTTATGCATTTCTCTAGTTGCGTCTGGAAGCCCTTCATCAGATTGTGGTGTTGATTTCTGGGATGGAGGAGAAGAGCAGTCAGGCAGGCTCTGGAGCTGGACGCACAGGCCTCAGTTTTCACTCTGCATCTTTGCTAACTTCAGTCAGACTTCAGTTCCTGTCTGGATGTTTCGGCCTGGGGGCTGTCAGTTATGGAGGTCCAAAGGGGGAGAATGTCCAGCTACATCATTACCAGGTAAACTGTTGCACTGGTCTGACCTTTGAGATTAGAGCTACTCCTAAAACATTTTTTTAATAAACTGTATGCACATGCTTTATTTTTTTTGTAGGATGGAGTCAGAGCAGCCAAGAAGAGTTTACAGATGGAAATTCAGACCGCTGTGCATAAGATCTATCAGCAGCTGTCAGTCACATTAGAAAGAGCCCTGCAAGCAAACAAACACCACATAGG[T/C]AATGGACTCAAACTCATACACTGCTTTGATTCAGGTACCATTTGCTATTATTTTATTATGCTATATATACTGTAAAAATGATTTGGATTGCTGTGTGTGTGTGTGTCCAGAGGCCCAGCAGAGACTTCTATTGGTGACGGTGTTCGCATTAAGCGTGCGATACCAGCCGGTTGATGTTTCATTAGCTATTTCTAGTGGCCTTTTGGATGTTCTTTCTCAGCTTTGTGGAACAGAAACCCTTCTTGGACAAACTCTGCAACTCCTGCAAAAGCCTGCTGGTTCTCAGCTCAGCACTGCCCTTAAAGTGGCCAGCACCAGACTGTTACAGATACTGGCCATCAGCACTGGGTACAACACAACGTTTTATTTCATTATACGTCTGTTCATTTCAGAGGCAATGTGAAAGTCAGCTGCTTTGTTTTATATTCTGATTCTAGACATGAATCTTCTTTTTAAAACTTGTGGGTGTGGGGGTCCTTTTCCACAAAAAATATAAAGCA
Associated Phenotype:
Not determined