ZMP
ENSDARG00000078898
Ensembl ID:
Human Orthologue:
PCDH7
Human Description:
protocadherin 7 [Source:HGNC Symbol;Acc:8659]
Mouse Orthologue:
Pcdh7
Mouse Description:
protocadherin 7 Gene [Source:MGI Symbol;Acc:MGI:1860487]
Alleles
There are 5 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa19453 | Nonsense | Available for shipment | Available now |
sa32628 | Essential Splice Site | Available for shipment | Available now |
sa18574 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa19453
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 |
---|---|---|---|---|---|
ENSDART00000111475 | Nonsense | 940 | 1283 | 2 | 6 |
Genomic Location (Zv9):
Chromosome 1 (position 13868925)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 14455711 |
GRCz11 | 1 | 15142224 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCAAGAAGGAGCCAGAAGAGGACTTTTTCGGTCCACAGCCTCCCCCTCTA[C/T]AAGCCCAGGGCTCCCAAAATGAGCGTGGGCGCAAACCACGCAGAGACAAG
Long Flanking Sequence:
ACACAAACACAGTGGCATCCACATACACAGTCACACTTGCCTGCGCAGAATAACTATGATTGAATATCCAAGCCTTGACATGATAATTGAGAAGTCTGGGCCTTGCAGTGGGGATGAATGTGTATGCGTGCGTGTGTGGTTCAGCAGACAGTGCTATAAAATGAGGATGCAGTTATCAAAGGGCAGACACACCATTTATGACTTTCCATATTTTTGCTTTTTCTCTCCCTCTGTATGCCTCTCTCTCACTCACTCAGGTGGCCCGCAGCCTTGCAATCCCCCTCTATATGGATATTGCAGGTGACCCAGACAGCGAGAGAGCTCTTGGTAAACAACGCCTGAGCGTTGCCATCGGTGTCTTGGCTGGTGCTGCTGCCGTTATTCTGGTGATCCTTCTGGTTGTGACAGCTCGACAGTGTGGGGCGCAGGGTAAGAACGGCTATGAGGCTGGCAAGAAGGAGCCAGAAGAGGACTTTTTCGGTCCACAGCCTCCCCCTCTA[C/T]AAGCCCAGGGCTCCCAAAATGAGCGTGGGCGCAAACCACGCAGAGACAAGCGTAATAATGGCACTGCCAAATCTGAGCGTTCTTTATACAGTGGAATTATGACGGTGAACGGCTGCAGACGTGGGGGAGGTGATGAAGAAGAGGAGGATGAGGAGAGCAGCAGTGCCAGTGAGAGGATTGCTGCCCGTTATTGCGCAGCAGCTAATGGAGACCCTAGTAGTCCAAGACTAGGCTCAAGGCGCCACCAGTCAAGCCCAGATCTGGCCCGCCACTACAAGTCCAGCTCACCCTTGCCTGCAGTGCATCTTCAGCCCAACTCACCACCCGTGGAAGGCAAGAAGCACCAGGCTGTGCAGGAACTGCCCCCCACTAACACCTTCACTGGCAATGGCACCGGTAACGCAGATGCTATGTCACTCAGCTCAGACCAGTGCTCCGATTACGGCTGTCAAACCATCAAGTACAGCAAACAGGTAAGAACATAAAATAATCTCTGACTC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32628
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:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000111475 | Essential Splice Site | 1153 | 1283 | 4 | 6 |
Genomic Location (Zv9):
Chromosome 1 (position 13924495)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 14511281 |
GRCz11 | 1 | 15197794 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAGAACCACACCAGAAGGGAGCGTAGGCGAGGAGGAGCATGTGGAAAATG[G/T]TAAAAAGTCATCCGAGGGAAAGATTTGAGGCCAGTAGTGAACAAAAAAGG
Long Flanking Sequence:
GCAAACAATTCCAGCTCTGACTGGTTGCTATGGCTCCACTATGCCGGGTGTTGTGGGTGGTTAATGAAATCAAAAGAGCTCACCTCAAGCCTTTGATATTCAGATGTCATCACATGCTGTTTATTGCTCAGCATAACCCTACTGTACGTGTTAGATATTTATATGCTTATCTACAGAGTGTCAACGAGAGATCATCCTCAATCCAATCAATCAGAGGTCTTTTGCAGATAATCCTCATTGATGTTATACCTGCTGTCACCTCTCATGTGTTAATCCCATGTGTCTCTGTGTCTCTGCGCAGCCCCTCAGAAGAGTGACATTTTCTGTGGTGAGTCAGGCTCCTGATCAAGGCTGCTATGATAGTGGGGTGGAGGACTCAGAGACCCCCAGCAGCAAGAGCTCCTCTGGACCCAGACTGGGATCTTTACCGCTGCCTGAGGACGGATATGAAAGAACCACACCAGAAGGGAGCGTAGGCGAGGAGGAGCATGTGGAAAATG[G/T]TAAAAAGTCATCCGAGGGAAAGATTTGAGGCCAGTAGTGAACAAAAAAGGACATGCGTTTCAAAATTTTATAGAATTATGTTTGTTTTTTGTTCGTCTCTCAGTTCAAAGGGATAGTTCACCCAGAAATTTAAATATTAAAGTAAGATTTTAAAGAATGTTGTTAACAGGACAGTTAAAGGTGCCATATAATGTATTACCTATACTTGTTCTACTAAAAATTAACGTTGATAAATGAATGGGCTTGATTAAGAGACATACCATTTTGATTGATTGATTGATTGATTGATTGATTGATTGATTGATTGATTGATTGATTGATTGATTGATTGATTGATTGATTGATTGATTGATTGATTGATTGATTGATTGATCGATCGATTGATTGATTGATTGATTGACTGACTAGTTGTTTAATTGTTTGTTTGGTTGGTTGGTTGGTTGGTTTGTTGGTTGGGTGGGTGGGTGGCTGATTTTTTGATTGATTGACTGACTGACTGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa18574
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:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000111475 | Essential Splice Site | 1154 | 1283 | 5 | 6 |
Genomic Location (Zv9):
Chromosome 1 (position 13926963)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 14513749 |
GRCz11 | 1 | 15200262 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGACAGTTCTTGACAGGATCTCCTAAAAAGGCCTCTGTTCTCTTTTCCTC[A/T]GACTCCAGGCAGCTYCCTGACGTGGCTCTGACAGGAAAATGCACACACGA
Long Flanking Sequence:
ACTGACTGACTGACTGACTGACTGACTGACTGACTGACAACTCACTGACTGACTGACTGGTTGGTTGGTTGGCTGGTTGGTTGGTCGGTTGTTTGTAGAAAAAAAATGACAAAAAGACCAAAAATTCAAACAGTGTATTTAGAAAATGTATTGGTAATTTTGTGATATAATTTATATATATTTTTTTACATTATCTTTTAGCATTACAAGCTATATATCCATCATTTAAAAAGACTATATTTTAAAATTGTTGAATTGGATTTGTTCTGCCCTGCATGAGTTCCAGCAGTAAATCCCACTCAATCTCAAGCTGACATGAACCTGGCCCCAGACCTCTGGACGCCACTGTAGACAGACAGACTTATTGGTTCTCCAGAGACATCACGAGTCTCTAAAATTTGACAGTCTGAACGAAAATGTTGACCTATTGACCTGTACATACTTGAGTAGAGACAGTTCTTGACAGGATCTCCTAAAAAGGCCTCTGTTCTCTTTTCCTC[A/T]GACTCCAGGCAGCTTCCTGACGTGGCTCTGACAGGAAAATGCACACACGAATGCAACGAGTACGGTCACTCTGACACCTGCTGGATGCCCGTGCAATCCTCACCACGACGACGCATCGAACCACCCCAACTTTCCACCTTCGCCTCACCCGGCGATAACAACAACAACACCGAAGACAACAGCGACCGAGAGGAAGATGGAGATGGAGGAACGGATAAAAGCAGCGGAGGTAGCGACGAGGTGCGGGATTCGCTAGCAAACGGAGATCCACTGGGAACACTCAGCCGCCGGGATCGGAACAGGAACATGGGTGACCATAACCGCAACCTCCTAAACCGTAAAATGACCTCCGCATCCTACGATACATTCAGCAGCGCCGGATTCGGCCGTCGTCCCGATGAAGAAGACTCGCATCCCCCAGAGGTCATACCGCTCACGAGGACGGGGGCTGATTATAAGACCACCTCGTGCCTCACTCTGTCCCGCAGAGAAGTGTACCT
Associated Phenotype:
Not determined