ZMP
nr5a1b
Ensembl ID:
ZFIN ID:
Description:
nuclear receptor subfamily 5, group A, member 1b [Source:RefSeq peptide;Acc:NP_997999]
Human Orthologue:
NR5A1
Human Description:
nuclear receptor subfamily 5, group A, member 1 [Source:HGNC Symbol;Acc:7983]
Mouse Orthologue:
Nr5a1
Mouse Description:
nuclear receptor subfamily 5, group A, member 1 Gene [Source:MGI Symbol;Acc:MGI:1346833]
Alleles
There are 5 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa37234 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa23855 | Nonsense | Available for shipment | Available now |
sa12365 | Nonsense | Available for shipment | Available now |
sa15009 | Nonsense | Available for shipment | Available now |
sa15470 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa37234
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 |
---|---|---|---|---|---|
ENSDART00000028265 | Nonsense | 25 | 502 | 2 | 7 |
Genomic Location (Zv9):
Chromosome 21 (position 7777675)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 8185226 |
GRCz11 | 21 | 8277765 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGGAAGAGATGTGTCCGGTGTGCGGGGATAAAGTTTCTGGCTATCATTA[T/A]GGTTTATTAACCTGCGAAAGCTGCAAGGTATTAAGTCAACCATTTAAAAT
Long Flanking Sequence:
TTTTTTAGAAATTAATTTACAACCTTTTTGAGCCTAGACATAAATTATTAAGCTAATGTGTCAAGTATAATGCGTTATCAAAATCATGCATATGTAATTATTAATGAAAATAACATAAATTTGCTTTTATAGCCTATATACTAAATATGGTTATTGAAAGTCTTAATCGTGCAATTTGTTTATTAATTAATCTGAAACCTAGTCGTTCATAATTTTAAAATCTGGTATAGTCTAAATAGTGTGTATATATATATATATATATTTAGGTGCTTTAAAAACAAAACAAGAAGCAAATTATGTATCGGAAGAACATGTACTAATTTCCAAAGCAATATAAAATTATAATTTTTTTTTATGAGAGGATATATTTGCTTCATTTGAAGTGTGTTTTATATGTGTGTGTGCGCAGGCGCTCGGCGGGGCGGGATGGACTACAGTTATGATGCGGACCTGGAAGAGATGTGTCCGGTGTGCGGGGATAAAGTTTCTGGCTATCATTA[T/A]GGTTTATTAACCTGCGAAAGCTGCAAGGTATTAAGTCAACCATTTAAAATATAGTTTAAGTTGCTTCGGGTTATCTAAAATGTCACGGCGTTATTCTATATTAACTGGATTTATTCGTTTGTTTTTAGCTACATGTTTAATTCAAAGCCTATGTTTATGTTATGAACGAATCAAATAGTATTTTTACCTTAAGTGTACAGAAAACTTGAATTTGAATATATAATTACACAAATAATCGAATCAAAAAGGCACAACTCCTAAAAAGAAAAGTTCTATTTTGGAATCGGTTCCACTTAGAACGTGTTCTGAATGTTTGAAAAACGTTCTATACATTTTTTAGAACGTTCACGATTAAGAAAATGCGATCTTAACTGAAGGATTATTACATGACATAGCTGCAATAAACAAATACATACATCAATTTGATTATTTTAATTATGTATTCGTTAATTTAAAACACAACGGCTTATGGAAATACATGTAATATTTAAAATAAATAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23855
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000028265 | Nonsense | 118 | 502 | 4 | 7 |
Genomic Location (Zv9):
Chromosome 21 (position 7783439)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 8190990 |
GRCz11 | 21 | 8283529 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGACCGGGCGTTAAAGCAGCAGAAGAAAGCTCTCATCCGGGCCAGTGGCT[T/G]AAAGATGGAAGCCACACCCCCTTTGCTGACGTCACCACAACCTGACTACA
Long Flanking Sequence:
AACAATAACTTGCCTGATTACCCTAACCTGCCTAGTTAACCTAATTAACCTAGTTAAGCCTTTAAATGTCACTTTAAGCTGTATAGAAGTGTTTTGAAAAAATATATAGTAAAATAATATTTACTGTCATCATGACAAAGATAAAATAAATCAGTTATTAGAGGTGAGTTTTTAAAACTATTATGTCTAGACATGTGTTGAAAAAAAAATCTTCTCTCCGTTAAACAGAAATTGGGGAAAAGAATTAACAGGGGTCAAATAATTCTGACTTCTACTGAATATATTTGCTTTCAGTGTTCTATATTATTTATAATAATAATAATAATTTAATAACAATAAAATAATAAAAAGTTATGATGTATAATGTAATATATCATTGTTTGTGCTCACAGCTGTCCGTGCGGATAGGATGCGAGGAGGCCGCAACAAATTCGGCCCCATGTATAAGCGAGACCGGGCGTTAAAGCAGCAGAAGAAAGCTCTCATCCGGGCCAGTGGCT[T/G]AAAGATGGAAGCCACACCCCCTTTGCTGACGTCACCACAACCTGACTACACCTTCAGCACAGCTTTGTCTGTGCCAGCTCCGAAAAACACCCATCCGAACATCGTCACCTCTGTGGCACCCACCGATTACGAACGCAGCCTCTACGCATCCAGCTCCCTGAGTTTATCCGTCCCCATCCCGGCCCACACTCCTCTCCCAGCACAATACCCCTATCCAAATCTGCCCAGCCGTGCCATAAAGTCTGAGTATCCTGACCACTACACAAGCTCAGAGCATTACACCAGTGCCAGCTCCCCAGAGTCAGTGCCAGGCTACACGTATATCGAGCAAACACGGGTGTCCAGCAGCCCGCAGGTGGTGGCACCGGGTTTAACAGTGCCGCCTTTGGTTCTGGAGTTTGTTCGCTGTGAGCAGGATGAGCTCCAGGTGCAAAGCAAAATAAGCGCTCACCTGGCGCACCTGCAGCAGGAGCAGAACTCACGGAGCACGGCAGCCAATC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12365
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 |
---|---|---|---|---|---|
ENSDART00000028265 | Nonsense | 186 | 502 | 4 | 7 |
Genomic Location (Zv9):
Chromosome 21 (position 7783642)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 8191193 |
GRCz11 | 21 | 8283732 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCTCCCTGAGTTTATCCGTCCCCATCCCGGCCCACACTCCTCTCCCAGCA[C/T]AATACCCCTATCCAAATCTGCCCAGCCGTGCCATAAARTCTGAGTAWCCT
Long Flanking Sequence:
AAAAAATCTTCTCTCCGTTAAACAGAAATTGGGGAAAAGAATTAACAGGGGTCAAATAATTCTGACTTCTACTGAATATATTTGCTTTCAGTGTTCTATATTATTTATAATAATAATAATAATTTAATAACAATAAAATAATAAAAAGTTATGATGTATAATGTAATATATCATTGTTTGTGCTCACAGCTGTCCGTGCGGATAGGATGCGAGGAGGCCGCAACAAATTCGGCCCCATGTATAAGCGAGACCGGGCGTTAAAGCAGCAGAAGAAAGCTCTCATCCGGGCCAGTGGCTTAAAGATGGAAGCCACACCCCCTTTGCTGACGTCACCACAACCTGACTACACCTTCAGCACAGCTTTGTCTGTGCCAGCTCCGAAAAACACCCATCCGAACATCGTCACCTCTGTGGCACCCACCGATTACGAACGCAGCCTCTACGCATCCAGCTCCCTGAGTTTATCCGTCCCCATCCCGGCCCACACTCCTCTCCCAGCA[C/T]AATACCCCTATCCAAATCTGCCCAGCCGTGCCATAAAGTCTGAGTATCCTGACCACTACACAAGCTCAGAGCATTACACCAGTGCCAGCTCCCCAGAGTCAGTGCCAGGCTACACGTATATCGAGCAAACACGGGTGTCCAGCAGCCCGCAGGTGGTGGCACCGGGTTTAACAGTGCCGCCTTTGGTTCTGGAGTTTGTTCGCTGTGAGCAGGATGAGCTCCAGGTGCAAAGCAAAATAAGCGCTCACCTGGCGCACCTGCAGCAGGAGCAGAACTCACGGAGCACGGCAGCCAATCAGGAGCAGAGCTCCCGCCTCGCAGCCAAACCCGAGCGGCTCAGCACATTTGGCCTCATGTGCCACATGGCCGACCAGACGCTCTTCTCTATCGTGGAGTGGGCACGAAGCTGCATCTTCTTTAAGGAGCTTAAGGTTAGTGTGAACACTGAATTCAAGGGTTGGCCAGTCCTAGAGCTGCACAATATATTGTTTCAGCATTGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa15009
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 |
---|---|---|---|---|---|
ENSDART00000028265 | Nonsense | 201 | 502 | 4 | 7 |
Genomic Location (Zv9):
Chromosome 21 (position 7783689)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 8191240 |
GRCz11 | 21 | 8283779 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCAYAATACCCCTATCCAAATCTGCCCAGCCGTGCCATAAARTCTGAGTA[T/A]CCTGACCACTACACAAGCTCAGAGCATTACACCAGTGCCAGCTCCCCAGA
Long Flanking Sequence:
GGGGTCAAATAATTCTGACTTCTACTGAATATATTTGCTTTCAGTGTTCTATATTATTTATAATAATAATAATAATTTAATAACAATAAAATAATAAAAAGTTATGATGTATAATGTAATATATCATTGTTTGTGCTCACAGCTGTCCGTGCGGATAGGATGCGAGGAGGCCGCAACAAATTCGGCCCCATGTATAAGCGAGACCGGGCGTTAAAGCAGCAGAAGAAAGCTCTCATCCGGGCCAGTGGCTTAAAGATGGAAGCCACACCCCCTTTGCTGACGTCACCACAACCTGACTACACCTTCAGCACAGCTTTGTCTGTGCCAGCTCCGAAAAACACCCATCCGAACATCGTCACCTCTGTGGCACCCACCGATTACGAACGCAGCCTCTACGCATCCAGCTCCCTGAGTTTATCCGTCCCCATCCCGGCCCACACTCCTCTCCCAGCACAATACCCCTATCCAAATCTGCCCAGCCGTGCCATAAAGTCTGAGTA[T/A]CCTGACCACTACACAAGCTCAGAGCATTACACCAGTGCCAGCTCCCCAGAGTCAGTGCCAGGCTACACGTATATCGAGCAAACACGGGTGTCCAGCAGCCCGCAGGTGGTGGCACCGGGTTTAACAGTGCCGCCTTTGGTTCTGGAGTTTGTTCGCTGTGAGCAGGATGAGCTCCAGGTGCAAAGCAAAATAAGCGCTCACCTGGCGCACCTGCAGCAGGAGCAGAACTCACGGAGCACGGCAGCCAATCAGGAGCAGAGCTCCCGCCTCGCAGCCAAACCCGAGCGGCTCAGCACATTTGGCCTCATGTGCCACATGGCCGACCAGACGCTCTTCTCTATCGTGGAGTGGGCACGAAGCTGCATCTTCTTTAAGGAGCTTAAGGTTAGTGTGAACACTGAATTCAAGGGTTGGCCAGTCCTAGAGCTGCACAATATATTGTTTCAGCATTGATATGGCAATCTGTTCATCTACAATAGTCACATCGTGAGATATGCAAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa15470
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 |
---|---|---|---|---|---|
ENSDART00000028265 | Essential Splice Site | 419 | 502 | 6 | 7 |
Genomic Location (Zv9):
Chromosome 21 (position 7813209)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 8220760 |
GRCz11 | 21 | 8313299 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GACCGCAGAGAAACCGCCTGCCKCAAATACCTCATCCTCTTTAAYCCCGG[T/C]GAGAATCATAAAGCTAATTCAYTTACGCACATTTTAATRTTAAAGTACAC
Long Flanking Sequence:
GGAGGTATGAAACACCCACTTAAAACAAGACACATCCATTCAGTCAATATCTAACTGTGTATGCTATTATGGATTTCTGTCCACTCTCAGAAATAAAGGTATGCGAGCTGTCACTGGGGTGGTACCTTTTTATAAGGTGCACATTTGTACTTAAAGGGTTCATATTGGCACCTTAAAAGTATATATTAATACCTAAAAAAATTAAGAGGAACACTTTTGTACTTTTTAGGTATTAATATAGACCTTTAAGGTACTTATTGGTATCTTTGGAAAAGGTACCACTCCAGTGACAGCATGCGTTCCTTTATTTCTGAGAGTGTATGATATTTACTATGTGTGTATGTGTGTCAGGTGGAGCTTGCATCTCTCCTGGCCCAGGCAGGGGTCACTTTAAGCGGGATGATCCAGAGAGGACAGGAGCTGGTGCAGCGTCTACAGGAGCTACAGCTGGACCGCAGAGAAACCGCCTGCCTCAAATACCTCATCCTCTTTAACCCCGG[T/C]GAGAATCATAAAGCTAATTCACTTACGCACATTTTAATATTAAAGTACACATGAAATTTAAACGAGCCATTTGATTTTGTTAGTTGACATTGCTAATTTTGTGTTAAACAAAAAAAAATGGTTGCAGCTTCCAGTTTATGTGAACTTTAGACATTAATAAAACCTAGATTAGAAGAGGTGCAGAATATGCAGCCTAAGGACCGATTTATACTTCTGCGTCAAGCGCACATGTATGCTCCGGCGAAGCATTCACGTGGTCACATAGCCCTCGCTGTGGCCGACGCTGAAAAATGTAACTACACATCACAACAAAGCATAGCACCAGCTCTGTGATTGGTCAGCTTGGTAGCTGTGCTGAGTGTGGGCGGGACCAAGAGCCGTAAGCCCGTTGGAGCGAGTGTTTACAAGTGTCCAGTCCCGTGAAGTAGCTCCAGATGGAAACTTTTGTTTTGTGTTTACCTTATGATTAAAGTTGTTGCACGTCTGCTGGTTTCCACCTC
Associated Phenotype:
Not determined