ZMP
pth1rb
Ensembl ID:
ZFIN ID:
Description:
parathyroid hormone 1 receptor b [Source:RefSeq peptide;Acc:NP_571453]
Human Orthologue:
PTH1R
Human Description:
parathyroid hormone 1 receptor [Source:HGNC Symbol;Acc:9608]
Mouse Orthologue:
Pth1r
Mouse Description:
parathyroid hormone 1 receptor Gene [Source:MGI Symbol;Acc:MGI:97801]
Alleles
There are 4 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa17271 | Nonsense | Available for shipment | Available now |
sa22039 | Nonsense | Available for shipment | Available now |
sa22038 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa17271
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 |
---|---|---|---|---|---|
ENSDART00000003805 | Nonsense | 57 | 542 | 3 | 14 |
ENSDART00000123989 | Nonsense | 57 | 542 | 2 | 13 |
Genomic Location (Zv9):
Chromosome 12 (position 10036296)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 9244251 |
GRCz11 | 12 | 9282094 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTGCGCGGTCRAGGTGTGAGAGAACCATCCGTGCACAGTCAGACGTGGTC[A/T]GAGGTATAACARTGTATTTMTATTTTATTTCAGCRCTATTTAYTGTATAT
Long Flanking Sequence:
TCCCATGTTCATGTGAGTTTCCTCCAACATGCTTTTCCCCATCAGTCCAAAGACATGCGCTAATGGTGAATTGGATGAACTAAATTGCCCGCAGTGTATGTGTGGATGCAATGGTGTATGGGTGTCTCCCAGTACTGAGTTGTGGCTGGAAGGGAATCAAACTGCATAAAACGTGGAATATGTCCTCTGAAATATTTGGCGATTCATTCCGCTGTGGCGACAGCTGATACAGTAAATAAGCCGAATAAAAAATGAATGACAATGCAGAACATGAACTTCCAAATAACAAAAGTCTCAGAATTACAGATAAAAATGTGCTGACGATATACATCAGACACGGTTTGTCTGAAATTGTATATATAAAAATAACGTTTCACCTTTCTCTGTTGCTCTTACAGATTGATTCAGATGATGTCATCACAAGAGATGAACAGATCTTTCTCCTCATTGGTGCGCGGTCGAGGTGTGAGAGAACCATCCGTGCACAGTCAGACGTGGTC[A/T]GAGGTATAACAGTGTATTTATATTTTATTTCAGCACTATTTATTGTATATTTTACCATAAATATGCTTTAAAATATGTATGAAATATTTGCATAAAGGGCCATTATACTATGCTATAATTGTTAGCAAGACACTTAAAGGTGCTGTAGGTGATCTGCCAAAATGCTAACTGTTAGCGTAATAGCTTTGAAAAAACAGTTCCATCCCTGCTATCCAAAGCCATGCCACCTGAAATCACGAATTTGCACTGTAAAGAAGACAGTAGACAACCCACTAGATCGTGTCATTCACCAGTTAGAAAACTTTATAGTACTTTATAACAATACAATTTCGAATGAAAAACTGTATCATATCTAGCAGTTTTCAGTTGTGTAGCAAGCAAAACTTGGAGTTTAACGTACATATCCTAAAAATTTGTTAAACTATATTATAGTTTATAGTATATTATTTGTACTAAAGCTTTTTTAATCATTCTTTAAAAGTTTTTTTCTGATATTAATG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa22039
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 |
---|---|---|---|---|---|
ENSDART00000003805 | Nonsense | 96 | 542 | 5 | 14 |
ENSDART00000123989 | Nonsense | 96 | 542 | 4 | 13 |
Genomic Location (Zv9):
Chromosome 12 (position 10029821)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 9237776 |
GRCz11 | 12 | 9275619 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCAGTTCATGTGGACTTTAAATATTAAGTATTTCTGTTTATTTTAGGATA[C/A]GCGTATCGACACTGTGATGCATCAGGTAACTGGGAGCAGGTGTCCATTAT
Long Flanking Sequence:
GTCAATAGCTTTTTTTTTTTTAAACATTCTTCAAAATACCTTGTTTTATTTGATTAAATAGCCCCTTTCACACAGTGATACCAGTAAATATCCGGAAAATTTCCGGAACAACTTTACCGGTAAATTAAAAAAACTGCTGTTAACACAGGCGAGGACGTTACGGAAATTTTCCGGAAAAGAGCATTCACACATCCATTCCAAAATACCAGTAAATTCTGACATGATTCACCACAAATGAGCTTTAAATGGCTGCGCTTGTATTTGTAAACATTTGACTAAATTACAAACTCTGTGGATGATCAATATTTTGAACAACTTTCGCAGGATCACTTTCGCATGTCGGGATGTTCAATCTAGGTGTTCGAAAAGGTCTGTATGTGTGAAAGGGGCTAATATCAGGTTTCAGTAAGAAACACATCGTCATTTTGAAATATAAGTCTGCAGAGACTTCCAGTTCATGTGGACTTTAAATATTAAGTATTTCTGTTTATTTTAGGATA[C/A]GCGTATCGACACTGTGATGCATCAGGTAACTGGGAGCAGGTGTCCATTATAAACCGGACGTGGGCAAACTACACGGAATGCACCACTTACCTGCACACCAACCACAGTGATCAGGAGGTACATCAATTTATAACTCATTAAGTGATATAATCTGTTGGAGCCAAACATGCTTACATATGAGCTCAGTGAAGTTTTAAGCATATGACTGCAACTGACTGACCACCATTTTGTCAATTATTAATTCATTTAAATCACAGGCGTCAAACTCAGTTCCTGGTGGGCTGCAGCTCTGCACAGTATAGTTCAAACCCTTATTAAACACACCTGATCAAACTAATTGAGTCATTTAGGCTTGCTTGATACCTACAAATGCATTAATAATTTAACAGCAAATTTCTTCTGCGTTTTTTTCCCTTTAGGGCTCACAAGAGTTGTATTTAAAGAATTAGTTAACCAAAACATGCAATGAATTAGGAGTCTGGACCTTCATGCCGTCCACT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa22038
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 |
---|---|---|---|---|---|
ENSDART00000003805 | Essential Splice Site | 167 | 542 | 7 | 14 |
ENSDART00000123989 | Essential Splice Site | 167 | 542 | 6 | 13 |
Genomic Location (Zv9):
Chromosome 12 (position 10023023)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 9230978 |
GRCz11 | 12 | 9268821 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACCTATACAAGTCAACCACATTTTTCTCTCTTCTGTATTTTCTTTCTCT[A/T]GACGTCTCCACTGCACTCGTAACTACATCCACATCCACCTCTTCACCTCG
Long Flanking Sequence:
CAAAGTAACATGGTAAACAATATAGGGAGGGCATCACAAGCTGTCATTGTTCAAAAATAAACTAATGTCATGTGAATATAATGTCAACTTCACCTCAGTAAAACAGGCTATAGGTGGAATAGCTCTGTTTACTGATGCTCTGTTGTTAAACTAAATAAAAATCTACATTACTGATGCTGTAAAAGGAATCTTATGAAATTAGAAATCAATTGGATGAACATTGTTTAGTCCTATGCCTTATTCATAATCAAAATACATATAAATACATTTAGATCATTTACTTTAATCATTACTATTGGAATGTGAAGATATTTTTAACTGCCCCTTTAACTGGCAAAATTATTTTACGACTTAAAAACTCAAACAGACAATCTTAAAATTACATAAAAGTTATGAAAAAGTATTTTCTTTGTGTAAATACATAATTATAAATAATTTCCACAAATACTTCACCTATACAAGTCAACCACATTTTTCTCTCTTCTGTATTTTCTTTCTCT[A/T]GACGTCTCCACTGCACTCGTAACTACATCCACATCCACCTCTTCACCTCGTTCATATGTCGAGCAATCAGTATTTTTGTGAAAGACGCCGTTCTTTACGCCGTCACGAATGATGGAGAACTAGAAGATGGGGCAGTGGAACAAAGACCCATGGTACATTCACAAAAAACCCATTAGCACACAAATACATAACTAACGCTTTCCAGAGAGATCAACATCAGCTTTATTGGCCTGTGTGTTTATCAGGTGGGCTGCAAGGCTGCTGTGACCCTCTTCCTGTATCTGTTGGCGACCAATCATTATTGGATCCTGGTGGAGGGTTTGTACTTGCATAGTCTGATCTTCATGGCCTTCCTGTCTGATAAGAACTGCCTGTGGGCTTTAACAATCATAGGCTGGGGTGAGCTGGCACTTTTTGTTTTGCAGATAGCTGTTGATAGTAATATTTGTGAGCATTCTAGTATGAAACAAGATTTGAAAGATAAGAAACTGTTTGGAAAT
Associated Phenotype:
Not determined