ZMP
EHBP1
Ensembl ID:
Description:
EH domain binding protein 1 [Source:HGNC Symbol;Acc:29144]
Human Orthologue:
EHBP1
Human Description:
EH domain binding protein 1 [Source:HGNC Symbol;Acc:29144]
Mouse Orthologue:
Ehbp1
Mouse Description:
EH domain binding protein 1 Gene [Source:MGI Symbol;Acc:MGI:2667252]
Alleles
There are 7 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa2907 | Splice Site, Nonsense | Available for shipment | Available now |
sa44873 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa42932 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa42933 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa42934 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa42935 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa11211 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa2907
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:
Splice Site, Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000064067 | Splice Site, Nonsense | 105 | 1243 | 5 | 27 |
Genomic Location (Zv9):
Chromosome 17 (position 23999752)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 24153194 |
GRCz11 | 17 | 24171595 |
KASP Assay ID:
554-2812.1 (used for ordering genotyping assays)
KASP Sequence:
TATAGTACATTTTAACTTGCCATCTCTTCTTTTTTTGTGTGTTATTTTAG[G/T]AGTCCCCATCGGGTCGTCGGAAAGCGCTGGCCACTAGCTGCATTAACATG
Long Flanking Sequence:
CATGGCGTGTGGTTTCCTTCACCATTTTTAATATGCTCCCCTGGCATCTATGGTAACTAGGCGTGAGGCAAGGCTGAAGGTGAAGGTAACTGATAGAACATGAGTGAAGGCTGCTAAGTTAAAATTATGTTAATACTGGTAAAGACTGTGTAAAGAAAACACAAGCCTGTGTTTGTCATGTGCATATATATGATCAGTAACACTGTATAAAAAGCAAATACTACTGTGAATCAGTCGACTCCTCATCTTCCTCAGCGTGACAATTATTATAAAAATCATGTTGAATGTACAACTATATTTGGCTTATTTTGACATTATATTAAATATGTGGCTAAGAAATAACTATTTAACATTTTCTGCAGGGGAAGTAAGAATCTGTACAACTATCCCAATTGGGCCAGTAGAAAAAGGTCTTAAATTGAACTGGTTAAACTCTGTTACAGTATGAAATATAGTACATTTTAACTTGCCATCTCTTCTTTTTTTGTGTGTTATTTTAG[G/T]AGTCCCCATCGGGTCGTCGGAAAGCGCTGGCCACTAGCTGCATTAACATGAAGCAGTATGCCAGTGCTATGCCCACACAGACCGACGTCAAACTTAAGTTCAAACCTCTGTCCAAGAAAGTGGTTTCAGCAACACTCCAGTTCTCCCTGTCCTGCATCTTCCTGCGAGAGGGCAAAGCCACGTAAGAGAAGCCCACCATACACACCTGCTAAACCAGCTGACTACACCCACCCTCGAGGAACTCGCCACTTTAAATTACTCTCTCATTCCTGCCTTTGCCTTCCAACATAGGCAGCGACAATACCTTACATTCTCAACATTCCTTTACTTGTACCCCCCCCCTCTCTCTCTTTCCCTCTCCCTCTTTCCCTCTCCCTCTCTCTCTCTCTCTCCCCCTCTCTCTTTCTCCTTCTCTGATTTCATTCTCTCTCTATACACACACCACAGTCAGGTGTTAGTGCTCGTTTGTCCTGCCAAATTGGAACTTGTCTTTATGTTGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa44873
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 |
---|---|---|---|---|---|
ENSDART00000064067 | Nonsense | 160 | 1243 | 5 | 27 |
Genomic Location (Zv9):
Chromosome 17 (position 23999917)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 24153359 |
GRCz11 | 17 | 24171760 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGAAAGTGGTTTCAGCAACACTCCAGTTCTCCCTGTCCTGCATCTTCCTG[C/T]GAGAGGGCAAAGCCACGTAAGAGAAGCCCACCATACACACCTGCTAAACC
Long Flanking Sequence:
CCTGTGTTTGTCATGTGCATATATATGATCAGTAACACTGTATAAAAAGCAAATACTACTGTGAATCAGTCGACTCCTCATCTTCCTCAGCGTGACAATTATTATAAAAATCATGTTGAATGTACAACTATATTTGGCTTATTTTGACATTATATTAAATATGTGGCTAAGAAATAACTATTTAACATTTTCTGCAGGGGAAGTAAGAATCTGTACAACTATCCCAATTGGGCCAGTAGAAAAAGGTCTTAAATTGAACTGGTTAAACTCTGTTACAGTATGAAATATAGTACATTTTAACTTGCCATCTCTTCTTTTTTTGTGTGTTATTTTAGGAGTCCCCATCGGGTCGTCGGAAAGCGCTGGCCACTAGCTGCATTAACATGAAGCAGTATGCCAGTGCTATGCCCACACAGACCGACGTCAAACTTAAGTTCAAACCTCTGTCCAAGAAAGTGGTTTCAGCAACACTCCAGTTCTCCCTGTCCTGCATCTTCCTG[C/T]GAGAGGGCAAAGCCACGTAAGAGAAGCCCACCATACACACCTGCTAAACCAGCTGACTACACCCACCCTCGAGGAACTCGCCACTTTAAATTACTCTCTCATTCCTGCCTTTGCCTTCCAACATAGGCAGCGACAATACCTTACATTCTCAACATTCCTTTACTTGTACCCCCCCCCTCTCTCTCTTTCCCTCTCCCTCTTTCCCTCTCCCTCTCTCTCTCTCTCTCCCCCTCTCTCTTTCTCCTTCTCTGATTTCATTCTCTCTCTATACACACACCACAGTCAGGTGTTAGTGCTCGTTTGTCCTGCCAAATTGGAACTTGTCTTTATGTTGTATGGAATAGTACCTTTCACACTTCACACACTCAAACTTATTGAACATACTTCATTGATGGGTGAAAAGGGATTTCTTTATTACATGTTATTCAGTATTAGTATTCCATTCAGTAGTCATCTCAATAGTTTTATGACTTTATTATTAACAGAGGTGTGTTTGGCTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa42932
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:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000064067 | Essential Splice Site | 165 | 1243 | 5 | 27 |
Genomic Location (Zv9):
Chromosome 17 (position 23999935)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 24153377 |
GRCz11 | 17 | 24171778 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACTCCAGTTCTCCCTGTCCTGCATCTTCCTGCGAGAGGGCAAAGCCACG[T/A]AAGAGAAGCCCACCATACACACCTGCTAAACCAGCTGACTACACCCACCC
Long Flanking Sequence:
ATATATATGATCAGTAACACTGTATAAAAAGCAAATACTACTGTGAATCAGTCGACTCCTCATCTTCCTCAGCGTGACAATTATTATAAAAATCATGTTGAATGTACAACTATATTTGGCTTATTTTGACATTATATTAAATATGTGGCTAAGAAATAACTATTTAACATTTTCTGCAGGGGAAGTAAGAATCTGTACAACTATCCCAATTGGGCCAGTAGAAAAAGGTCTTAAATTGAACTGGTTAAACTCTGTTACAGTATGAAATATAGTACATTTTAACTTGCCATCTCTTCTTTTTTTGTGTGTTATTTTAGGAGTCCCCATCGGGTCGTCGGAAAGCGCTGGCCACTAGCTGCATTAACATGAAGCAGTATGCCAGTGCTATGCCCACACAGACCGACGTCAAACTTAAGTTCAAACCTCTGTCCAAGAAAGTGGTTTCAGCAACACTCCAGTTCTCCCTGTCCTGCATCTTCCTGCGAGAGGGCAAAGCCACG[T/A]AAGAGAAGCCCACCATACACACCTGCTAAACCAGCTGACTACACCCACCCTCGAGGAACTCGCCACTTTAAATTACTCTCTCATTCCTGCCTTTGCCTTCCAACATAGGCAGCGACAATACCTTACATTCTCAACATTCCTTTACTTGTACCCCCCCCCTCTCTCTCTTTCCCTCTCCCTCTTTCCCTCTCCCTCTCTCTCTCTCTCTCCCCCTCTCTCTTTCTCCTTCTCTGATTTCATTCTCTCTCTATACACACACCACAGTCAGGTGTTAGTGCTCGTTTGTCCTGCCAAATTGGAACTTGTCTTTATGTTGTATGGAATAGTACCTTTCACACTTCACACACTCAAACTTATTGAACATACTTCATTGATGGGTGAAAAGGGATTTCTTTATTACATGTTATTCAGTATTAGTATTCCATTCAGTAGTCATCTCAATAGTTTTATGACTTTATTATTAACAGAGGTGTGTTTGGCTAGAAAGGGACCTCTGTATG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa42933
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000064067 | Nonsense | 358 | 1243 | 9 | 27 |
Genomic Location (Zv9):
Chromosome 17 (position 24014215)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 24167657 |
GRCz11 | 17 | 24186058 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATCAAATCCTTTCTATGAGCCCAGATTGTCTGGCTCAGACAGTAGCACCT[T/A]AGAGAAGAGCATGAAGCGCCGGGCCCCACAGCCTCCCAGTGCTGGACCGA
Long Flanking Sequence:
ACCACCAATAAAATTAAACAACAAGTTCAATTTCTAAATGTCCGAATTAAACAGATTCTAATGCTCAGCTAATATGCATGCACACTCAAAAGGAATGAGATCACGACACCAACCTCATTTATGGCCGTTCTACACATTATCATCCTCTGGATAATGCTCCGTCTAATGGCACTGCTCTTCTGAAGTAATCCACAACTTGGTCTTGATGGTAATTCTCCTCCAGAACTGATGCTCTTTGTTTACAAGTCTGTAGACGTTTGAGTAATTGCTGTCATGTGATGTGCGTTTGACAGGACTGACTGTACCTCAGACTTTCTTTGAGGATCACCAAAACTTGCATGGAATAATTATTCAGTTTAAGAATCACAATGTGAGCTAGCTAAATAAACATAGCAAAATTTGATTTTAATCTTTATTTCCTGATGTGGCTGTTTGTTCTCCCTATTTCAGATCAAATCCTTTCTATGAGCCCAGATTGTCTGGCTCAGACAGTAGCACCT[T/A]AGAGAAGAGCATGAAGCGCCGGGCCCCACAGCCTCCCAGTGCTGGACCGAACCTTTCTGTGACCCCTGGACCAACACCTATACCAAAGACTTCATCTCCTGAAGGAACATCCACTCCACCAGCACTGGCTCCTTCAGTTTTGACAGCTGTGATAGGGAGAGAGTTGGCCTCATCCTCACCTAAGGTCAGTTTTCCTCCCGTCCTTGTGACCCTGATTACACCTTGTACTAAGATGCAGTTTTGTTGGTCTCATCAGAAGTGGACAATGCTTACAAAAAGTGTAGATCTTCATCTGGTACTTTTATTTTTTTAACACTTTAAAATGAAGATTGTGTTAATCTATATTGCAGTCTACATTGACTCCGTTTACATGGACATCAGTAATCAAATTATTAGAAGGAGGTACTATTATAAAGGAGTTACTTACTATTATAGGAGTAAGGTGTTTACATGAGTTTCTTTTTGAATGTTTCTTTCATGATCCCGTTTTACATGTTACA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa42934
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000064067 | Nonsense | 528 | 1243 | 12 | 27 |
Genomic Location (Zv9):
Chromosome 17 (position 24050391)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 24203833 |
GRCz11 | 17 | 24222234 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCAGACATGGTTCTACTGGCGATCCCGGATAAGCTGACAGTGATGACTTA[C/A]CTGTATCAGATCAGGGCTCATTTCAGTGGCGAGGAGCTCAACGTGGTGCA
Long Flanking Sequence:
TTTGAACTGCAGCAGATTGTCTTGACCATGTCTACATGCCAAAATGCATTGAGTTGCTGCCATGTGATTGGCTGATTAGAAATTTTCGTTAACAAGCAGTTGGACAGGTGTACCTAATAAAGTGGCCGGTGAGTGAACGTATTTATTTAATTATTGCTGTTTTTTTAAAGTTTGTTTGTTTTATTTTATTTTGCTTTAATTTATTATATTTTATTTTTCACCCACTAGCAACACACAGTGAATTTTGGACCCTACATCCAGCAGTTTACCATACCACATTGTCTTCTGGTGTCTTACTGATCTAAATAATTACCTTTTTTCTATGTTTTTGGTCCATCAGTACCATAATTTTTCTGTGTTTAAATTGTTTTAAACGTCTTCATTATATTCTTCTGTCTACAGGCCTATGATGGTTTTGCCAACCTGGGCATCTCTCGGCTTCTCGAGCCTTCAGACATGGTTCTACTGGCGATCCCGGATAAGCTGACAGTGATGACTTA[C/A]CTGTATCAGATCAGGGCTCATTTCAGTGGCGAGGAGCTCAACGTGGTGCAGATCGAGGCTAACAGCAGTCGCAGCACATACAAAGTTGGAGACTTCGAAACAGACACAAACAGTTCCATCGACCAAGACAAGTTCTATGCCGAACTCAATGATATCCACCGCGAGCCCACCAATCAAGATGCTGCCGCAACCAACGGTGGCTCTGATGGAAATGAAAAACAGGAAGTCAAGTCAGTCGCGACAGCTGGAGGATCTGGTTCTCTATCCGCCTCCCCAGGGGAACTTTTAAAAGAAGTAGCTCCATCTTTACGGTCATCCAAGGCAGACTCGCCAGCAGCTCCATCTGTCACAGAGCTTCACCTGCGACCCACCCAGACCACAAGAACCAGCCTGGAGAGCAGCCGACCTCCTACTGTAGAACAGAAGAAGCTCCTCAAGGCTGATACACTGGACATGGGTGACCTGCCTCATAGGCTAGAGAGAGAAAAGGAGAAATTTGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa42935
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000064067 | Nonsense | 530 | 1243 | 12 | 27 |
Genomic Location (Zv9):
Chromosome 17 (position 24050397)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 24203839 |
GRCz11 | 17 | 24222240 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGGTTCTACTGGCGATCCCGGATAAGCTGACAGTGATGACTTACCTGTA[T/A]CAGATCAGGGCTCATTTCAGTGGCGAGGAGCTCAACGTGGTGCAGATCGA
Long Flanking Sequence:
CTGCAGCAGATTGTCTTGACCATGTCTACATGCCAAAATGCATTGAGTTGCTGCCATGTGATTGGCTGATTAGAAATTTTCGTTAACAAGCAGTTGGACAGGTGTACCTAATAAAGTGGCCGGTGAGTGAACGTATTTATTTAATTATTGCTGTTTTTTTAAAGTTTGTTTGTTTTATTTTATTTTGCTTTAATTTATTATATTTTATTTTTCACCCACTAGCAACACACAGTGAATTTTGGACCCTACATCCAGCAGTTTACCATACCACATTGTCTTCTGGTGTCTTACTGATCTAAATAATTACCTTTTTTCTATGTTTTTGGTCCATCAGTACCATAATTTTTCTGTGTTTAAATTGTTTTAAACGTCTTCATTATATTCTTCTGTCTACAGGCCTATGATGGTTTTGCCAACCTGGGCATCTCTCGGCTTCTCGAGCCTTCAGACATGGTTCTACTGGCGATCCCGGATAAGCTGACAGTGATGACTTACCTGTA[T/A]CAGATCAGGGCTCATTTCAGTGGCGAGGAGCTCAACGTGGTGCAGATCGAGGCTAACAGCAGTCGCAGCACATACAAAGTTGGAGACTTCGAAACAGACACAAACAGTTCCATCGACCAAGACAAGTTCTATGCCGAACTCAATGATATCCACCGCGAGCCCACCAATCAAGATGCTGCCGCAACCAACGGTGGCTCTGATGGAAATGAAAAACAGGAAGTCAAGTCAGTCGCGACAGCTGGAGGATCTGGTTCTCTATCCGCCTCCCCAGGGGAACTTTTAAAAGAAGTAGCTCCATCTTTACGGTCATCCAAGGCAGACTCGCCAGCAGCTCCATCTGTCACAGAGCTTCACCTGCGACCCACCCAGACCACAAGAACCAGCCTGGAGAGCAGCCGACCTCCTACTGTAGAACAGAAGAAGCTCCTCAAGGCTGATACACTGGACATGGGTGACCTGCCTCATAGGCTAGAGAGAGAAAAGGAGAAATTTGAGGTCAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa11211
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000064067 | Nonsense | 1080 | 1243 | 20 | 27 |
Genomic Location (Zv9):
Chromosome 17 (position 24105284)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 24258726 |
GRCz11 | 17 | 24277127 |
KASP Assay ID:
2261-1048.1 (used for ordering genotyping assays)
KASP Sequence:
TCATCACTCCCCCTTTCCTCTCGTTTGTTCTCTCCCAGCAGAAAGCGTTC[A/T]AAGACACCAGTCAGTACGTGGTGGGAGAACTGGCGGCGCTGGAGAGTGAG
Long Flanking Sequence:
AGCTTACAGTTAGCATTGTGTTTATTAATCTCAATTAACATTAAGAATAATGAAATTGTTTATGACAGTTCACAGCCATTTAACTGATGTTAATGAACACAATCTAAATTGTAATAATGTATTAGTAAACGTTGAAACATACAATAGCTAAAATTAATAAATGCTCTATAAACATTTTTCACTGTTAGCTCATTATCATTTTTTTTTTCATTTTTTAATTTATTTATTTAGGTAATAATTTGACATAATTTTTTACAAGAATCCCCATTACCTTTTAGCAAGAATCCACATTTAACAAGAATTCCCATTCCCTAATTTCCAAAGAAAGCACATAAAAGAGCATAGGCTTGCTTGCTTAATTAATTAAAGCCACAGATTCAGCAGTCATCATTATGACCGCTGTTCCCCTGGCATTATAAAGCCCGGATGTGATGCTTCATTTCTAACCTCTCATCACTCCCCCTTTCCTCTCGTTTGTTCTCTCCCAGCAGAAAGCGTTC[A/T]AAGACACCAGTCAGTACGTGGTGGGAGAACTGGCGGCGCTGGAGAGTGAGCAGAGGCAGATCGACACGCGGGCCTCGCGCGTGGAGAAGCGTCTGCGCTATCTCATGGACACAGGTACGCCGCCCAATTACACTGTAAACAGTTTTGGCAAATTGAGCGTTCACAAACTCTTATGGAGTTTGGGAAGTGTGAATCTTTGAAGCCGGGATGTTGGGGCGGCAGCGGGGATATGAAAAGGGGCGGTGAGGATGCAGGGAGGCTCTCTGGGCCGCCGTGATAAGAGAGCCTTCATGGGAGCTGATAACTAGTGCTGATAGCGTCCGCCAGCCAGCCACTATTGAACAGTACCGTGCAGCCATGCGCAACAGAACCTCATATCTGGCCTTCAATGATATGCTGTAGAAGAGAGAGAGAGAGAGAGGGTGAAGAGGGGAGAAAGAAAAACGGGGAGGGCTGATGTTTGGGGGCTGGACCGAAAGGAAATGTTGAAATAATGAAAG
Associated Phenotype:
Not determined