ZMP
slco2b1
Ensembl ID:
ZFIN ID:
Description:
solute carrier organic anion transporter family, member 2b1 [Source:RefSeq peptide;Acc:NP_001032767
Human Orthologue:
SLCO2B1
Human Description:
solute carrier organic anion transporter family, member 2B1 [Source:HGNC Symbol;Acc:10962]
Mouse Orthologue:
Slco2b1
Mouse Description:
solute carrier organic anion transporter family, member 2b1 Gene [Source:MGI Symbol;Acc:MGI:1351872]
Alleles
There are 10 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa37368 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa37367 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa18539 | Essential Splice Site | Available for shipment | Available now |
sa24018 | Splice Site, Nonsense | Available for shipment | Available now |
sa24017 | Nonsense | Available for shipment | Available now |
sa25168 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa9418 | Nonsense | Available for shipment | Available now |
sa19270 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa37368
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000076840 | Essential Splice Site | 26 | 677 | 1 | 14 |
ENSDART00000088735 | Essential Splice Site | 26 | 669 | 1 | 15 |
ENSDART00000129046 | Essential Splice Site | 26 | 133 | 2 | 4 |
ENSDART00000145109 | Essential Splice Site | 26 | 677 | 2 | 15 |
The following transcripts of ENSDARG00000054609 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 39010114)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 40150179 |
GRCz11 | 21 | 40173732 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACAGACAGCGCGACCTCGTAGATCAATGGGTCTCTTCAACAATATCAAG[G/A]TATGTTTCTCAATATAACTAACAGCCTTAATTGAATCCATAGAAATATGA
Long Flanking Sequence:
TAAAGTCTTGCTCAATGACATCAGTCAGCTTCTCTGCCAATTCACAAGAACCATCTGTGGAGTAAACGGTGCAAAATTTTAAAGAAGGCAGCCAAGCACTTTAAAGTTTACATAATATTTTTATTACATATGTTTGGAGTTTAAATATATATCATCATTAAAATGTCATCTTTAAAATAGCTGTCTATACTCTACATCAGAAAATGATGTACGCATAGTGCTATTTTAGTTTAAGAATGCAACCATTTTCTGCTTTAAATAGCATGCAGGAAACAACTTGCAGGTAATTAAAGATTATAGCTTTTATTTTTCTAGATTACCGTTGAAAAGAGCGATAACAGAGAATGCCCTAAGGATGTCTTTTTGTGTTATTGAGGAAAACTCTTTTTATTTTTACTTTTATTCTGCCAGAACAATACAAAATGACAGCATTCGAACCCCAAGGAAACCCACAGACAGCGCGACCTCGTAGATCAATGGGTCTCTTCAACAATATCAAG[G/A]TATGTTTCTCAATATAACTAACAGCCTTAATTGAATCCATAGAAATATGACTTCTTAAATAAAGGTGCACAGCTTAAAATAAATAAATATTGCACAGCTTACCACAAGATGTGCATCATATAGTTGAAGGTAATTTCAACAATTCTTTATCAAATATTTATCAAGTAAAGTGTTTAAAAGAGAAATATATTTTTTGCAGGTTTTTTAATTTTTTTCCTTCTGGAGAAATTATTTATTTTATTTGGAAAAATAAAATAAATAAAATAAAATAAAAGCTATACATAATTATACAACAGTTCTGTCTGGTTTTTGAACCTGATATATCTGCGATATTCTGCAATAACATCGCTCTTACAGCCTTTTCACTCTGGTGTATTACTCCACCCCCACAAAGAGTGAAAGCAGATCAATGGACTCACTACAGTTTGACAAAACTTGCAGCTGTTGGACAACATAAAGTACGTTTGAGGCTTTTTTTTAGGTGAGAATATAGTTGTTTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa37367
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000076840 | Essential Splice Site | 197 | 677 | 4 | 14 |
ENSDART00000088735 | Essential Splice Site | 197 | 669 | 4 | 15 |
ENSDART00000129046 | None | None | 133 | None | 4 |
ENSDART00000145109 | Essential Splice Site | 197 | 677 | 5 | 15 |
The following transcripts of ENSDARG00000054609 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 39001887)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 40141952 |
GRCz11 | 21 | 40165505 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCCTACATAGACGATTATGCAGAAAGGAGGAATTCACCCTTCTACCTAGG[T/C]TTGATTGGACATTGATTATATACAGTATTCCCATAATATGGTGGTTTATC
Long Flanking Sequence:
AAAACACACACACATATATACATATATATACATATATATATATACATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATTATTTTATTTTATTTTTTTTTCTTTCAGTTTCTTTTTCTCCCACCCATTTTTTTTTTCTCCCACCGTTTTTTTTCCACCATCATTTCCCTTCCGGGTCTCCATAGAATGTTAACTTTGAGATTAACATATTTCGAAAAAGCACTTTATTAACCGAGTGTATTTATAACATAGATACCAGACTCAACTCCAGCCTTTGCCAGACACAGGACATAGAATCCAGTCCGACATGCAGTCAAAATGATACAGACCCTCAATTGGGAGTGTATCCAATACTTCTGCTGGGCCAGTTACTGCTGGGCATTGGTGGTGTTCCAATACAACCTTTTGGCATTTCCTACATAGACGATTATGCAGAAAGGAGGAATTCACCCTTCTACCTAGG[T/C]TTGATTGGACATTGATTATATACAGTATTCCCATAATATGGTGGTTTATCCAAGAATTATTCAACTCTTGTGTTTTTTTTTACAGGCATACTTTTTGCAGTTACCGTAATTGGACCAGCTTTTGGCTACATCATGTCATCTGCTGTGCTTCGCTTGTATGTCGACATAGACAAGATGTCTTTAAGTAAGTTTGATATGACATGATATAACTTCAAATATGCACATAATGTTTCAAGTCGTACGCCATTACAAATAAATCCATCAGCAGCTATACTAACATGTCTAAACGAGTATGTTTTGACAAGCTACTGATTCTAAATAAAAGTGTTGACCTCAAGATTCAACATGTTTACCAGCGTTGCTTGGTTTATGAAATAAAAGCAAGCGCAAAGCTATGTGTTTGAGCTTCTTGTGGTGATGTTTGATGAATGCTTTACCATTATTCCATTTCAGATGAAAACAAATTAGAACATGGTGACCCCAGATGGATTGGTGCTTGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa18539
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:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000076840 | Essential Splice Site | 554 | 677 | 12 | 14 |
ENSDART00000088735 | Essential Splice Site | 554 | 669 | 12 | 15 |
ENSDART00000129046 | None | None | 133 | None | 4 |
ENSDART00000145109 | Essential Splice Site | 554 | 677 | 13 | 15 |
The following transcripts of ENSDARG00000054609 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 38983039)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 40123104 |
GRCz11 | 21 | 40146657 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GATAAGTCTTTTGCYGTGGGAATTCAGTTCATGCTGTTCAGAGTTCTTGG[T/G]AAGCAATAGAAAGTCAATCAGGCAGAACAGACATGTCATATATTAATAAA
Long Flanking Sequence:
ATAAGAATAATGAATAATGGTATATTCTATGAAAAAAAGGGTGTTAAAATGAGCACTAGTTTTTGATCTTCTAATCTCTGCTGTGACTAATGTGTTCACTTTACTATATATTTTAAAGCCAAAGGTGTCCCTCATTTGTCTTGCATCTTGCCCTTCAGCAATAATATGACATAGTATCATTCTACCTTCGTCAAAAACCTGTCTGTGCAAGCCCTGTCAATGTGTCGAAAAACTGCCATCAGTGTAATAACAGGCCACAGACCTGCCCTTATTTTCCGAAAATGCCTCAAGGAACATGTTAAAAAAAATCAAAGAGTTCAAAGTCTAACATTCAGTAGATTGAATTGAAATGTCATTTTTGAACACAAAATGCTGTAAAATTGTGTATAAACTGTGATGTTTTCACTAAACAAAATCTGTTGGCTTTTACCCAGGACCGTGACTCCGGAAGATAAGTCTTTTGCCGTGGGAATTCAGTTCATGCTGTTCAGAGTTCTTGG[T/G]AAGCAATAGAAAGTCAATCAGGCAGAACAGACATGTCATATATTAATAAAACATGTTACTGACAAACCAACCAGAAGGACGCCGAGTACAGTCAACAAAATATTAAAGCAACATGTTTTATGATGGTATGATAGACAAGATAACAACTTCAAGCAGTTTTACTGTAGTTGATGTTTTACCAATCTGTGATATAATCACCCGTATTGCAAAAAGTACCCACATTGAGGGTAAAAAAAACATTCAATGCAAAAGAAAAAAAAAACTGTAATAACACAGTGAAAATGCTCCTCTAATTAAAGTTATTAAAGCAAATAAAAAGTAATATGAATAAAAATGAAATTATACAATATGATCCAGTTTATATCACAATTATGTATTTTCTCTATTATCATCTATAGAATGCTGTTTCCTAATACAATACAAAAATCTGTCAAAAATCTGGGTCACACTTTACAATAAGGTTCATTATATAATGGTAATTAATGTATTTACTAACATGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa24018
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:
Splice Site, Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000076840 | Nonsense | 631 | 677 | 14 | 14 |
ENSDART00000088735 | Splice Site | None | 669 | None | 15 |
ENSDART00000129046 | None | None | 133 | None | 4 |
ENSDART00000145109 | Nonsense | 631 | 677 | 15 | 15 |
The following transcripts of ENSDARG00000054609 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 38977711)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 40117776 |
GRCz11 | 21 | 40141329 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTTGGTGCTTCGGAGGGCAGATTCATCTCAACAACAACAACATCAACAA[C/T]AACAACAACAACAACAACAACAACAACAACAACAACATCATGAAATGAAC
Long Flanking Sequence:
CACAACAAATGTGAAAAGTTTAATATTTAACAAACCGTTTACTTCATATTTTATATAATTTCTCACATGGATAATTGAATTATTAATATTGATAATGTCATGACTCTGATGTGCCCTCAGCCAGTCGTTGCATTGCTGATCATGATTTTGAGGATCAGTAGAGCTGTCCTTCACAACACATGCAGGAATCTCAGATCAGTTCATTTTAATCTGATTCGTGAACTTGTTTAAAAAACCAAAATAGCCAGAGATCAGTTATCAAGATTAAAAGATCCAGGATTTACCAAATCATCTTAGATCATTTAAGCGAGGTACGAAGAATGGACCCCAGGTTGAGATATTTTCAGTCCAGTTAACGTTCTGACTTTATATATCATTTTTTTTTACACAGATTCCTGGGACTCCAGATATTTTTTATATGTGGTGGCTTCGTCTGTTTCCTTCTGTCCTTTTTGGTGCTTCGGAGGGCAGATTCATCTCAACAACAACAACATCAACAA[C/T]AACAACAACAACAACAACAACAACAACAACAACAACATCATGAAATGAACATTCAAACCAAAAGTGAAAGTTCCCAGGAAACGAAAGATGATAAACAGACTGTGAGCAATTCAAATGGACACAGCAATACAACGTGTCCTTAGAGAGTAAAAACATCTGTGATTGAAAGAATGAAACTGACTGTTTAGTGGGTGGAAGAAGGGCTTAAGAATTGTGTTTAATAAAATGAGTGTCTCAGCTTGCCATATATAAGCAAGCAGTTGTACAGGCCAAGTTTCTGACACTTTTCTGACAAAAAACAGACTGTGAACACACTCATTTCTACAAACAGCTGACATCGGTCAAAATGCAAAGTGGCAAAGTTCACTTCAAAAGACTATATTGTTTCTGTTATCTTTGCCAGTAAATGATTTTCATTGCTTTTCTTTGAAGTTTTATGAAAATTTTATCTGTGAACACACAATCTAGTACTTTACACATTTTATATGCTAACAATGTGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa24017
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 |
---|---|---|---|---|---|
ENSDART00000076840 | Nonsense | 634 | 677 | 14 | 14 |
ENSDART00000088735 | Nonsense | 626 | 669 | 15 | 15 |
ENSDART00000129046 | None | None | 133 | None | 4 |
ENSDART00000145109 | Nonsense | 634 | 677 | 15 | 15 |
The following transcripts of ENSDARG00000054609 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 38977702)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 40117767 |
GRCz11 | 21 | 40141320 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCGGAGGGCAGATTCATCTCAACAACAACAACATCAACAACAACAACAA[C/T]AACAACAACAACAACAACAACAACAACATCATGAAATGAACATTCAAACC
Long Flanking Sequence:
TGTGAAAAGTTTAATATTTAACAAACCGTTTACTTCATATTTTATATAATTTCTCACATGGATAATTGAATTATTAATATTGATAATGTCATGACTCTGATGTGCCCTCAGCCAGTCGTTGCATTGCTGATCATGATTTTGAGGATCAGTAGAGCTGTCCTTCACAACACATGCAGGAATCTCAGATCAGTTCATTTTAATCTGATTCGTGAACTTGTTTAAAAAACCAAAATAGCCAGAGATCAGTTATCAAGATTAAAAGATCCAGGATTTACCAAATCATCTTAGATCATTTAAGCGAGGTACGAAGAATGGACCCCAGGTTGAGATATTTTCAGTCCAGTTAACGTTCTGACTTTATATATCATTTTTTTTTACACAGATTCCTGGGACTCCAGATATTTTTTATATGTGGTGGCTTCGTCTGTTTCCTTCTGTCCTTTTTGGTGCTTCGGAGGGCAGATTCATCTCAACAACAACAACATCAACAACAACAACAA[C/T]AACAACAACAACAACAACAACAACAACATCATGAAATGAACATTCAAACCAAAAGTGAAAGTTCCCAGGAAACGAAAGATGATAAACAGACTGTGAGCAATTCAAATGGACACAGCAATACAACGTGTCCTTAGAGAGTAAAAACATCTGTGATTGAAAGAATGAAACTGACTGTTTAGTGGGTGGAAGAAGGGCTTAAGAATTGTGTTTAATAAAATGAGTGTCTCAGCTTGCCATATATAAGCAAGCAGTTGTACAGGCCAAGTTTCTGACACTTTTCTGACAAAAAACAGACTGTGAACACACTCATTTCTACAAACAGCTGACATCGGTCAAAATGCAAAGTGGCAAAGTTCACTTCAAAAGACTATATTGTTTCTGTTATCTTTGCCAGTAAATGATTTTCATTGCTTTTCTTTGAAGTTTTATGAAAATTTTATCTGTGAACACACAATCTAGTACTTTACACATTTTATATGCTAACAATGTGAAAACTAAGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa25168
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 |
---|---|---|---|---|---|
ENSDART00000076840 | Nonsense | 638 | 677 | 14 | 14 |
ENSDART00000088735 | Nonsense | 630 | 669 | 15 | 15 |
ENSDART00000129046 | None | None | 133 | None | 4 |
ENSDART00000145109 | Nonsense | 638 | 677 | 15 | 15 |
The following transcripts of ENSDARG00000054609 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 38977690)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 40117755 |
GRCz11 | 21 | 40141308 |
KASP Assay ID:
554-7571.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATTCATCTCAACAACAACAACATCAACAACAACAACAACAACAACAACAA[C/T]AACAACAACAACAACATCATGAAATGAACATTCAAACCAAAAGTGAAAGT
Long Flanking Sequence:
AATATTTAACAAACCGTTTACTTCATATTTTATATAATTTCTCACATGGATAATTGAATTATTAATATTGATAATGTCATGACTCTGATGTGCCCTCAGCCAGTCGTTGCATTGCTGATCATGATTTTGAGGATCAGTAGAGCTGTCCTTCACAACACATGCAGGAATCTCAGATCAGTTCATTTTAATCTGATTCGTGAACTTGTTTAAAAAACCAAAATAGCCAGAGATCAGTTATCAAGATTAAAAGATCCAGGATTTACCAAATCATCTTAGATCATTTAAGCGAGGTACGAAGAATGGACCCCAGGTTGAGATATTTTCAGTCCAGTTAACGTTCTGACTTTATATATCATTTTTTTTTACACAGATTCCTGGGACTCCAGATATTTTTTATATGTGGTGGCTTCGTCTGTTTCCTTCTGTCCTTTTTGGTGCTTCGGAGGGCAGATTCATCTCAACAACAACAACATCAACAACAACAACAACAACAACAACAA[C/T]AACAACAACAACAACATCATGAAATGAACATTCAAACCAAAAGTGAAAGTTCCCAGGAAACGAAAGATGATAAACAGACTGTGAGCAATTCAAATGGACACAGCAATACAACGTGTCCTTAGAGAGTAAAAACATCTGTGATTGAAAGAATGAAACTGACTGTTTAGTGGGTGGAAGAAGGGCTTAAGAATTGTGTTTAATAAAATGAGTGTCTCAGCTTGCCATATATAAGCAAGCAGTTGTACAGGCCAAGTTTCTGACACTTTTCTGACAAAAAACAGACTGTGAACACACTCATTTCTACAAACAGCTGACATCGGTCAAAATGCAAAGTGGCAAAGTTCACTTCAAAAGACTATATTGTTTCTGTTATCTTTGCCAGTAAATGATTTTCATTGCTTTTCTTTGAAGTTTTATGAAAATTTTATCTGTGAACACACAATCTAGTACTTTACACATTTTATATGCTAACAATGTGAAAACTAAGTGTTGTTGTTTGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa9418
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 |
---|---|---|---|---|---|
ENSDART00000076840 | Nonsense | 676 | 677 | 14 | 14 |
ENSDART00000088735 | Nonsense | 668 | 669 | 15 | 15 |
ENSDART00000129046 | None | None | 133 | None | 4 |
ENSDART00000145109 | Nonsense | 676 | 677 | 15 | 15 |
ENSDART00000076840 | Nonsense | 676 | 677 | 14 | 14 |
ENSDART00000088735 | Nonsense | 668 | 669 | 15 | 15 |
ENSDART00000129046 | None | None | 133 | None | 4 |
ENSDART00000145109 | Nonsense | 676 | 677 | 15 | 15 |
The following transcripts of ENSDARG00000054609 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 38977574)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 40117639 |
GRCz11 | 21 | 40141192 |
KASP Assay ID:
2261-5995.1 (used for ordering genotyping assays)
KASP Sequence:
GATGATAAACAGACTGTGAGCAATTCAAATGGACACWGCAATACAACGTG[T/A]CCTTAGAGAGTAAAAACATCTGTGATTGAAAGAATGAAACTGACTGTTTA
Long Flanking Sequence:
GATCATGATTTTGAGGATCAGTAGAGCTGTCCTTCACAACACATGCAGGAATCTCAGATCAGTTCATTTTAATCTGATTCGTGAACTTGTTTAAAAAACCAAAATAGCCAGAGATCAGTTATCAAGATTAAAAGATCCAGGATTTACCAAATCATCTTAGATCATTTAAGCGAGGTACGAAGAATGGACCCCAGGTTGAGATATTTTCAGTCCAGTTAACGTTCTGACTTTATATATCATTTTTTTTTACACAGATTCCTGGGACTCCAGATATTTTTTATATGTGGTGGCTTCGTCTGTTTCCTTCTGTCCTTTTTGGTGCTTCGGAGGGCAGATTCATCTCAACAACAACAACATCAACAACAACAACAACAACAACAACAACAACAACAACAACAACATCATGAAATGAACATTCAAACCAAAAGTGAAAGTTCCCAGGAAACGAAAGATGATAAACAGACTGTGAGCAATTCAAATGGACACAGCAATACAACGTG[T/A]CCTTAGAGAGTAAAAACATCTGTGATTGAAAGAATGAAACTGACTGTTTAGTGGGTGGAAGAAGGGCTTAAGAATTGTGTTTAATAAAATGAGTGTCTCAGCTTGCCATATATAAGCAAGCAGTTGTACAGGCCAAGTTTCTGACACTTTTCTGACAAAAAACAGACTGTGAACACACTCATTTCTACAAACAGCTGACATCGGTCAAAATGCAAAGTGGCAAAGTTCACTTCAAAAGACTATATTGTTTCTGTTATCTTTGCCAGTAAATGATTTTCATTGCTTTTCTTTGAAGTTTTATGAAAATTTTATCTGTGAACACACAATCTAGTACTTTACACATTTTATATGCTAACAATGTGAAAACTAAGTGTTGTTGTTTGAGCTCACTGTGGCTCAGTGCATCAAGAAGCCAAGCATGTGCATTTAATCTAAAAAAATGTATTTGTGGTGCTTTTTTATAAGCATTTTGTGTTGTTGTTCTTTTTTTTTTTTTGTAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa19270
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 |
---|---|---|---|---|---|
ENSDART00000076840 | Nonsense | 676 | 677 | 14 | 14 |
ENSDART00000088735 | Nonsense | 668 | 669 | 15 | 15 |
ENSDART00000129046 | None | None | 133 | None | 4 |
ENSDART00000145109 | Nonsense | 676 | 677 | 15 | 15 |
ENSDART00000076840 | Nonsense | 676 | 677 | 14 | 14 |
ENSDART00000088735 | Nonsense | 668 | 669 | 15 | 15 |
ENSDART00000129046 | None | None | 133 | None | 4 |
ENSDART00000145109 | Nonsense | 676 | 677 | 15 | 15 |
The following transcripts of ENSDARG00000054609 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 38977574)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 40117639 |
GRCz11 | 21 | 40141192 |
KASP Assay ID:
2261-5995.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GATGATAAACAGACTGTGAGCAATTCAAATGGACACAGCAATACAACGTG[T/A]CCTTAGAGAGTAAAAACATCTGTGATTGAAAGAATGAAACTGACTGTTTA
Long Flanking Sequence:
GATCATGATTTTGAGGATCAGTAGAGCTGTCCTTCACAACACATGCAGGAATCTCAGATCAGTTCATTTTAATCTGATTCGTGAACTTGTTTAAAAAACCAAAATAGCCAGAGATCAGTTATCAAGATTAAAAGATCCAGGATTTACCAAATCATCTTAGATCATTTAAGCGAGGTACGAAGAATGGACCCCAGGTTGAGATATTTTCAGTCCAGTTAACGTTCTGACTTTATATATCATTTTTTTTTACACAGATTCCTGGGACTCCAGATATTTTTTATATGTGGTGGCTTCGTCTGTTTCCTTCTGTCCTTTTTGGTGCTTCGGAGGGCAGATTCATCTCAACAACAACAACATCAACAACAACAACAACAACAACAACAACAACAACAACAACAACATCATGAAATGAACATTCAAACCAAAAGTGAAAGTTCCCAGGAAACGAAAGATGATAAACAGACTGTGAGCAATTCAAATGGACACAGCAATACAACGTG[T/A]CCTTAGAGAGTAAAAACATCTGTGATTGAAAGAATGAAACTGACTGTTTAGTGGGTGGAAGAAGGGCTTAAGAATTGTGTTTAATAAAATGAGTGTCTCAGCTTGCCATATATAAGCAAGCAGTTGTACAGGCCAAGTTTCTGACACTTTTCTGACAAAAAACAGACTGTGAACACACTCATTTCTACAAACAGCTGACATCGGTCAAAATGCAAAGTGGCAAAGTTCACTTCAAAAGACTATATTGTTTCTGTTATCTTTGCCAGTAAATGATTTTCATTGCTTTTCTTTGAAGTTTTATGAAAATTTTATCTGTGAACACACAATCTAGTACTTTACACATTTTATATGCTAACAATGTGAAAACTAAGTGTTGTTGTTTGAGCTCACTGTGGCTCAGTGCATCAAGAAGCCAAGCATGTGCATTTAATCTAAAAAAATGTATTTGTGGTGCTTTTTTATAAGCATTTTGTGTTGTTGTTCTTTTTTTTTTTTTGTAA
Associated Phenotype:
Not determined