ZMP
CDHR1 (2 of 2)
Ensembl ID:
Description:
cadherin-related family member 1 [Source:HGNC Symbol;Acc:14550]
Human Orthologues:
CDH23, CDHR1
Human Descriptions:
cadherin-related 23 [Source:HGNC Symbol;Acc:13733]
cadherin-related family member 1 [Source:HGNC Symbol;Acc:14550]
cadherin-related family member 1 [Source:HGNC Symbol;Acc:14550]
Mouse Orthologue:
Cdhr1
Mouse Description:
cadherin-related family member 1 Gene [Source:MGI Symbol;Acc:MGI:2157782]
Alleles
There are 7 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa35383 | Nonsense | Available for shipment | Available now |
sa22186 | Essential Splice Site | Available for shipment | Available now |
sa18079 | Nonsense | Available for shipment | Available now |
sa22185 | Essential Splice Site | Available for shipment | Available now |
sa22184 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa35383
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 |
---|---|---|---|---|---|
ENSDART00000065278 | Nonsense | 39 | 755 | 1 | 15 |
Genomic Location (Zv9):
Chromosome 12 (position 50606370)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 48973214 |
GRCz11 | 12 | 48994743 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCTTTGATAAGGGCTCTAAACAGTTCTTCAGTGTGGAGCCCAAATCTGGC[A/T]GAGTGACCCTGGTGGAGCATCTGGACAGAGAGGTCAGAGGTCATGCGAGT
Long Flanking Sequence:
ACAACACTGATACACAAAAGACACACACAACACTTATACACAACAGACACACACAACACTGATACACAACAGACACACACAACACTGATACACAAAAGACACACACAACACTGATACACAAAAGACACACACAACACTTATACACAACAGACACACACAACACTGATACACAACAGACACACACAACACTGATACACAACAGACACACACAACACTGATACACAACAGACACACACAACACTGATACACAACAGACACACACAACACTGATACACAACAGACACACACAACACTGATACACAACAGACACACACAACACTGATACACAACAGACACACACACAACACTGATGAACAATAATCATCATCGCTCTTTTCTTCTCCGCAGGGACTCATGTCTACACCCTGAACGGCTCTGACCCCGAGGGTGACCCTGTGACCTTTGGTGTGACCTTTGATAAGGGCTCTAAACAGTTCTTCAGTGTGGAGCCCAAATCTGGC[A/T]GAGTGACCCTGGTGGAGCATCTGGACAGAGAGGTCAGAGGTCATGCGAGTAATATAAGACTAATAATGTTCCTAACCGAATACTGATCATCACCGACCGCTGTTCATCACCGACCGCTGTTCATAACCGACCGCTGTTCATCACCGACCGCTGTTCATCACCGACCGCTGTTCATCACCGACCGCTGTTCATCACCGACCGCTGTTCATCACCGACCGCTGTTCATCACCGACCGCTGTTCATCACCGACCGCTGATCATCACCGACCGCTGTTCATCACCGACCGCTGTTCATAACCGACCGCTGTTCATCACCGACCGCTGTTCATCACCGACCGCTGTTCATCACCGACCGCTGTTCATAACCGACCGCTGTTCATCACCGACCGCTGTTCATCACCGACCGCTGTTCATCACCGACCGCTGTTCATCACCGACCGCTGTTCATCACCGACCGCTGTTCATCACCGACCGCTGTTCATCACCGACCGCTGATCATCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa22186
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000065278 | Essential Splice Site | 156 | 755 | 5 | 15 |
Genomic Location (Zv9):
Chromosome 12 (position 50600187)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 48967031 |
GRCz11 | 12 | 48988560 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGCTGGACTTTGAGACGTCACGGACACATTTCATCACTGTGGTGGCAAAG[G/A]TGAAGCCCTGAGCATCCAGCGCTCATGTGGATCTTCAACAAAAGTGTTTA
Long Flanking Sequence:
GATAAACTTTTTATCCGATAAGAAAAGATGCACACAAACTGCGATGGAAACACTTTTACTGCACAAACTCCAGCAAGCGCATTAAAAAGGTGATGTGATCTTGTGATGAGAGATCATGTGATGATAAAAATGTGTGTGAATGGATAACCCATCAGGCTGAGCACACTGTAACATCTGAAATGTTGGTTTGGTCATTATAAAACGCCTCACTGTTTGACCTCCAGAGTCAAGAGCGTCCGCCTTCAAATGGACCTGTTTAACTCTGGACAGAAGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTATACTCCTCTTCATGCGTGTCTCTGGTCTGCAGTCGTCTCCTGATGGTCTGTTCAGCATTGACGGTCACAGTGGTGTTCTGCGGGTCAGGGAGCGGCTGGACTTTGAGACGTCACGGACACATTTCATCACTGTGGTGGCAAAG[G/A]TGAAGCCCTGAGCATCCAGCGCTCATGTGGATCTTCAACAAAAGTGTTTACACCCATAAATGTTTTGTTATCAGCTTAACTGAGACCATTGTGTGTGTGTGTGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTCAGGACGGAGGCGGTAAATATCATGGTAAATACCAGGTGTTGAGCTCCACCGCTGTCATTACCATACATGTGCAGGACGTCCAGGATTCTCCTCCAGTGTTTGTTGGCACTCCATATTTTGGGTTTGTCTATGAAGTCTCTGTCCCGGTAAGCATCTCTCTATTCCACTTCTAAAACACACAATAACTGAACTGATGCAGTGTCCTTCAGTTTGTGTACTAGAAAGGGTTATGCAACCCCAAATCAGCAGCAGTAGGACAAAGCCAAATCAAAGTTTAAAGTGGAGATTTCTAAATTTCCTTTGACTTTTGATTGAGCCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa18079
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000065278 | Nonsense | 203 | 755 | 7 | 15 |
Genomic Location (Zv9):
Chromosome 12 (position 50599406)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 48966250 |
GRCz11 | 12 | 48987779 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTCAYGAGGTGCAGAAACTGAGCTCTSCTSATGGTTTTGTGTCCAGGGTT[C/A]AGAGATTTTTACTGTTTTTGCGAAGGATGGAGMCCAGAGCAGCCCCAACC
Long Flanking Sequence:
TTGTTGGCACTCCATATTTTGGGTTTGTCTATGAAGTCTCTGTCCCGGTAAGCATCTCTCTATTCCACTTCTAAAACACACAATAACTGAACTGATGCAGTGTCCTTCAGTTTGTGTACTAGAAAGGGTTATGCAACCCCAAATCAGCAGCAGTAGGACAAAGCCAAATCAAAGTTTAAAGTGGAGATTTCTAAATTTCCTTTGACTTTTGATTGAGCCTGAACACAAAATATCTGATGTTTGGTCTGCTCAACTTCTTTTCATTTGGAAATATTCATCCTCTCCTGTCATTCAGACCTGCGACACACTCCAGACAATACACAGTCAAAATACATTTGGAAGTCACTACTGTCTCCTTTATTGTGTTTCCATGCTGTCCCGACTGCTGCTGGTTTGGGGTTGTAGATAAATGAGCGTGAACTGCTGCATTAATGAATCAGGCAATGAATATTCATGAGGTGCAGAAACTGAGCTCTGCTGATGGTTTTGTGTCCAGGGTT[C/A]AGAGATTTTTACTGTTTTTGCGAAGGATGGAGACCAGAGCAGCCCCAACCCTATTCATTACTCCATCCTGAACGGTGAGAAACTGTAACTCCACATGTGCACATCTGCACCGGCCAGATCCTTCAGTTATAAACACAGTGACCGAGCGCTTCAGTCTGCTCGTCTGCGCTTCAGTCTGCTATGAACAATAGCGAGAGCTCGGTTCTCAGACGCTCCGCTTAGCAGATTAGCTCTCACACCCGTTGCAATTCCCCTACTGTTGTTGTAAATTTTTCCTCTTCCCTTCTTCTTCTTCCTCCTCTTCCTCTACCTCCTCATCTTCCTCTACCTTTTCCATGTCCTCCTCCACTTCTTCTTCCTCCTCTTCTTTTTATTTTTTCTCTTTCTCCTTCTCTTCTTCTTCTTCTTCCCAAAGGCAGTGACGGCTTCTTCAGCATCAACAGCTCCAGCGGCTGCATCAGTCTGGTCTCGTTTCCTGTTCAGCTGAGGAATGAGTTGTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa22185
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000065278 | Essential Splice Site | 330 | 755 | 9 | 15 |
Genomic Location (Zv9):
Chromosome 12 (position 50597134)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 48963978 |
GRCz11 | 12 | 48985507 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAGGAGAAATCCTGCGCGGACTAAAGATCACTGTCAACGACTCCGACCAG[G/A]TGAAGGGCACTGAACACTAAACAGTGGACACTAGACAGTGAACACTAAAC
Long Flanking Sequence:
AGTACAGTACAGGGATCAGAATATCAGTACAGTACAGTAATAAGAATATCAGTACAGTACAGTGATCAGAATATCAGTACAGTACAGGGATCAGAATATCGGTACAGTACAGTAATAAGAATATCAGTACAGTACAGGGATCAGAATATCGGTACAGTACAGTGATCAGAATATCAGTACAGTACAGTAATAAGAATATCAGTACAGTACAGTGATCAGAATATCGGTACAGTACAGTGATCAGAATATCGGTATAGTGGAGACGTGTGTGATGCTCCTTCTGTGCTGTACTCCAGGCTGCAGAGGTCGGAGCTGATGGAGTGCTTGCAGACTCCTCCATCACCACCGTCACCATTCGGGTGGTGGATCTGAACAATCATCCACCCACATTCTACGGAGAAAGCGGCCAGCAGAACCACTTCGACATCAGCATGTATGAACACCCGGCAGAAGGAGAAATCCTGCGCGGACTAAAGATCACTGTCAACGACTCCGACCAG[G/A]TGAAGGGCACTGAACACTAAACAGTGGACACTAGACAGTGAACACTAAACACTGAACACTAAACAGTGGACACTAGACAGTGAACACTAAACATTGAACACTAAACAGTGGACACTAGATAATGAACAGTAAACAGTAGACACTTAACAGTTAACACTTAACACTAAACAGTGACCACTTAACAGTGGACCCAAGATAGTGAACACTAAACAGTGGACACTAGACAGTGAACACTGAACACTAAACAGTGGACACTGAACAGTTAACACTGACCACTAAACAGTGGACACTGAACAGTGAACGGGACAGCAGCATTTCCTCCAGCGCTGTGCAGACTGAAGCAGCAGGTGAACTGGAGACAGCAGCTCTGTTTCAGCTGTGGATCCTTCAGTCCTGCTTAAGAAAACGATCTTAATGTTTCAATGTTGAAGATTCACAAAGTCCTTCTAACCCTACACACAGCACACACACTAGCTGCGTCCCAAATTGCATACTTATGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa22184
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000065278 | Nonsense | 583 | 755 | 14 | 15 |
Genomic Location (Zv9):
Chromosome 12 (position 50593857)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 48960701 |
GRCz11 | 12 | 48982230 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCACGGGCGAGATCAAGCTCAAACCCTACATCAAGAGTCTGGAGATCGTG[C/T]AGAACATCAGTAGGCAGAGGGAGTGCCGCTGGTCCGTGGTGGTGCAGGCC
Long Flanking Sequence:
GAGTCTGATCTTCTGCTCTGCTTCAGGTTCCTCATCCATCCCTCGTCCGGCATCATCTACACGCAGCCCTGGGCCGCTTTAGATGCCGAAGTCAAGTCCAAATATAATTTCTATGTAAAAGCTGAAGACACCGAGGGCAAGTACAGCCTGGCGGAGGTTTTCGTGACAGTTCTCGACCAAAACGACCATCCGCCAGAGTTCAACGAGAACTTCCTGGAGAAGACGATGATCATCGGCGCTCCGGTGAAAATACAGGTGAGTTATTTTACAGGCTGATGTTCTGTGCGCCGCCATCTGTCCCTGCGGCAGATTAGAGCGATGATACATCTGTGGTTATGTGAATACCCGACTGTGTTCAGGCGGTGGACGAGGACGCAGAGGAGCCCAATAACCTGATCGAGTACTCCATCATGAAAGCAGATCCAGACAACATCTTCGACATCAACACGTCCACGGGCGAGATCAAGCTCAAACCCTACATCAAGAGTCTGGAGATCGTG[C/T]AGAACATCAGTAGGCAGAGGGAGTGCCGCTGGTCCGTGGTGGTGCAGGCCCGAGACCGCGGATCTCCATCCTTCAGCACCACTGCGGTCGTGAAGATCGACATCACGGAGGCGGTGAGCGCTAATCACACGCTAACACACATTCACCACTGCGAACACAGCCGCTCTGATTATGAGAGAGAATGAGCATCTAGATGGACACGGTATTACCAGTGGAAGAACAGCGGCTGTATTTCAGCGCTTCAGTTGTTGTTGTTGACCTTTACTCTAGCCGTGAGTAACATATGCACACGTCATCATCATCATGCTCTATATTCTCCTCACGCATGCACGTTTACTGTCACGATCATGATCGTTCACAGAAGTCATAGGAGAGCGTGGAATAACAGCAGTGTTGAAGAGCTCAGGAATATACTGTGCTGCTGTACTGCGCACATTACTGCAACAAACAACACAGTCCAGCGCGGACAAGAGTGCTCAGAGCAACCATTGCCATCTGTC
Associated Phenotype:
Not determined