ZMP
atp2b3b
Ensembl ID:
ZFIN ID:
Description:
plasma membrane calcium-transporting ATPase 3 [Source:RefSeq peptide;Acc:NP_001121714]
Human Orthologue:
ATP2B3
Human Description:
ATPase, Ca++ transporting, plasma membrane 3 [Source:HGNC Symbol;Acc:816]
Mouse Orthologue:
Atp2b3
Mouse Description:
ATPase, Ca++ transporting, plasma membrane 3 Gene [Source:MGI Symbol;Acc:MGI:1347353]
Alleles
There are 8 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa10773 | Essential Splice Site | Available for shipment | Available now |
sa43954 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa24300 | Nonsense | Available for shipment | Available now |
sa37672 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa18149 | Nonsense | Available for shipment | Available now |
sa24299 | Essential Splice Site | Available for shipment | Available now |
sa37671 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa43953 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa10773
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 |
---|---|---|---|---|---|
ENSDART00000092725 | Essential Splice Site | 307 | 1174 | 5 | 21 |
The following transcripts of ENSDARG00000023445 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 23 (position 20181878)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 19966985 |
GRCz11 | 23 | 19893328 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACTCTACTGGGAGCTGGAGAAGGAGAAGAGGAGAAGAAAGAGAAGAAAGG[T/C]AGGTGTAAAAAGCCAAAGCATCAAACACCAACCAAAACGCRCACACWCAC
Long Flanking Sequence:
TACATTAAAAATACCCTTAAATATACATTTTTGTACTGCTTCAGTGAAATTAAACAAGTATATTAAAATTCATTCATTTTCACTAGTTTTTTTAGTATTGGTATTAGTAAGTGTGCTTTAAATGCTTTAAAAATTAGTTAAATCTAATTTAATAAATGTAGACAAATATATGTACTGTATATCATTTACTTTCAAAATGCGGGCAATATATTATAGATTAATTTCATTCTAAAAAATACTATGTTATTCTTATTTTTTTAATTTAACAATAGGGGTGCAACTAGATAGGGGGCCTACAAGACATTGTGCCCAGGGGCCTCTGAATTCTTAATCCGGGCCTGTCTCTGTCTCTCTCATTCCCTCTCTTTATCAGGTACTCATGTGATGGAGGGTTCGGGAAGGATGCTGGTGACTGCGGTTGGAGTGAACTCTCAGAGCGGCATCATATTCACTCTACTGGGAGCTGGAGAAGGAGAAGAGGAGAAGAAAGAGAAGAAAGG[T/C]AGGTGTAAAAAGCCAAAGCATCAAACACCAACCAAAACGCGCACACACACAGACAAAACAAGCGCAGAGGCTGATGTAGGACGAGCTGAGAATGAGTAGCACTAGCAGACAGAGGAGAACGCCAAAGTGGAAGATCCTTACATAAGAGCGAAAGAGAAAGACACGGGCTTGATGTGAATGGAGGAGCAGAGGACTCAGAGCCTGCAGGAGGATTTATGAATGGTAGGACGAGCAGAGCTTCACCGCTGCAAACTTTATGGGCCGTGTCATGGCTAATTTAACCTGCAGGCAACAGAGAGAGGAGACTGGAGAGAGCGGGAACGGAGAAGGATTAGGAGTTATATTGGAGGAGGCTGATTAATTATTCAGAGAAAGAGAACGAACGAGAGCAACTGAGAGAGAGCAAAGGTTGGATGTGGGTGGATGAAGGATGAAGTGGTACTGGTACTGGCCCACTGAATCACTCCAGCCGCCTCACAAGCACAATTCAAATGTCTCTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa43954
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 |
---|---|---|---|---|---|
ENSDART00000092725 | Essential Splice Site | 447 | 1174 | 8 | 21 |
The following transcripts of ENSDARG00000023445 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 23 (position 20172913)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 19958020 |
GRCz11 | 23 | 19884363 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGAGGGTCTTCCCCTCGCTGTTACCATCTCTCTGGCCTATTCGGTTAAGG[T/C]AAGACAGAGACCCAAGTGCACTGTGTGCGTGATAGATAACAGATTACTGT
Long Flanking Sequence:
AAGGCTGCCTCTAAGTCCTCTGTGACCATGCAGACGTTTGACCCTGTCCATCCCACCTGATGTCATTAAAAATAATTTTATAAATAAAATTTAATGATCCTTCAAAAAACGGTTTGTCACCTTTAATAAATGTATAACTTTTATTAATTTTAATCATAGTGTGCAGATTGATTGCGCAGCCTATGTTAGCCACATCATTAAAGAATCCAAAAGCTGCATTCAGACAAAACATTTATCTGCAATAATATTCTAAATATTGTTGTGCTTGTTGTTTTCCATTGTAGGTCTTGTGATGTCAGCCATCACAGTTATCATCCTGGTGCTGTACTTTGTGATTGACACGTTTGTAGTGGGTAACATGACCTGGTTGCCCGAGTGTACGCCCATCTACGTGCAGTATTTTGTCAAATTCTTTATCATCGGTGTGACTGTGCTGGTAGTGGCTGTGCCTGAGGGTCTTCCCCTCGCTGTTACCATCTCTCTGGCCTATTCGGTTAAGG[T/C]AAGACAGAGACCCAAGTGCACTGTGTGCGTGATAGATAACAGATTACTGTTAACAGATTACATAAGCACATTTGAAAACAAACACTTTTTTTTAGATTATATAATATTTTTAGCTTGATTTGCTTTTGTAAACACTCTTTTCATCATCCAAATTTTTGTTTGTTGTTAATTTAGAAAATGATGAAGGACAATAATCTTGTGCGTCACTTGGATGCCTGTGAGACAATGGGCAATGCCACTGCCATCTGCTCCGACAAGACTGGCACCCTCACCACCAATCGCATGACTGTAGTGCAGTCTTACATAAACGACCAGCACTTCCGAGAGATCCCGGACCCCAGCCAGATCAGCCCCAACACCCTTGAGATGATCGTCAATGCCATTTCTATCAATTGCGCCTATACCTCCAAGATCATGGTGAGACACTGGATTATGTATGTGATTTAAAATAAAGCTAAACAATCAAGCTTATTTTGAAAAGTTTCTTAAAGGAACAGTTC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa24300
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 |
---|---|---|---|---|---|
ENSDART00000092725 | Nonsense | 598 | 1174 | 10 | 21 |
The following transcripts of ENSDARG00000023445 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 23 (position 20171895)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 19957002 |
GRCz11 | 23 | 19883345 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAGTCCATGAGCACTGTGGTGCAGATGCCGGATGGAAGCTTCCGACTCTA[C/A]AGCAAAGGAGCCTCTGAGATCGTTTTAAAAAAGTAAGTATGACAAGAACT
Long Flanking Sequence:
AAATCATCATCTATTACTTCTTAAATAATTACATATTCTGAAGAATATCTATAACCAAATAGTTGACAGAAACCATTGAATCCCATTGCATTTGTTCCAACTGTCCAAGACTAGGCATTCATAAACTGGTTATTTACCAACATTCTTTGAAACATCTTCTTTTGTTTTCAGTAGAAACAGAAACAGTTTAGGATTTTTTTTTTTTAAAGTGCACAGGGTTGTCAAATAAAAATAGATCCAGTTCAGTTTTCTTTCCTCTGCGTCTCACACGTCATTTCAATTCTCTTTCAGCCACCAGATGTGGAAGGTGGTCTGCCCAAGCAAGTTGGTAATAAGACCGAATGTGGTCTGCTGGGTTTCCTACTGGACTTGAAGAGAGACTACGCCCCTGTGAGAGAGCAGATCCCAGAGGAGAAGCTCTACAAAGTCTACACTTTCAACTCAGTACGCAAGTCCATGAGCACTGTGGTGCAGATGCCGGATGGAAGCTTCCGACTCTA[C/A]AGCAAAGGAGCCTCTGAGATCGTTTTAAAAAAGTAAGTATGACAAGAACTAGGATGTTGTTTATCTGACTGGTTGTCCTTAGCTGTTTTAATCCAAAGTTGGGATTTTTATGTACACTACAGTACCTGACAAAAGGCTTGACGTCTGTCCCAGTTGTAAGAGCAACAAATAATAACTGGATTTCTAGCTGATCATTTGGAAAAAAGTTAGATTTTTCCGATGAATTATCTGTTGAACTGAACCCAATTATCACAAATACTGCAGAACGCCTATTGGACCCAAGATTCTCACAGAAATCAGTCAAGTTTCGTGAAGGAAAAATCATGGTTAGGGGTTTCATTCAGTATGGTGTGTGCGAGAGATCTGCAGAGTGGATGGCAACATTAAAAGCTTGAGGGGTCATGGCATTTGTGCTGCCCATTACATTACAAACCCCAAGAGAGGGCAAATTCTTCAGCAGGATAGCGCTCCTTCTCATACTTCAGCCTCCACATCAAAGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa37672
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 |
---|---|---|---|---|---|
ENSDART00000092725 | Nonsense | 645 | 1174 | 11 | 21 |
The following transcripts of ENSDARG00000023445 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 23 (position 20170224)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 19955331 |
GRCz11 | 23 | 19881674 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGGATGAGATGGTGAAGAAAGTGATTGAGCCTATGGCATGCGAAGGCCTG[C/T]GAACAATCTGCATCGGTTATCGTGATCTTCCTGGCGACCCAGAGCCTGAG
Long Flanking Sequence:
CAGACGTCTTATTGAAATTAACTTAATTATTTTGACAACAGAATTTGGCTCAAGTTAGGGCATCCACTCTTATGGCTAAACACAGACATCTAGCACGACTGCACTCACAGAAACGCAAATTCAATTCCTGCCTTTGCCGATCCCTCTGTAGCCCAGCTTTTCTGTCATATTTCTTCTGTCCTATTTGCAAAACATGAAAATGCCAACAAAAGAGACTTTGGCTCAGGCATTTTAGAGCAGCTAAAACTTAAAACTTAATTTGAGATGTTGTGCAATGAGATTTGTTCACTGGTAACTTGAGGCACATGGGTGTTTTGACCTTTGTATTATTACAATATCCCCCATTAAAATATTTATATATGTTAAGACTTCTCTGCTTCTACTTGTACCATAGATGTTCCTCCATACTTGGTACCAATGGCGAAGCACGAAACTTTAGACCACGGGATCGGGATGAGATGGTGAAGAAAGTGATTGAGCCTATGGCATGCGAAGGCCTG[C/T]GAACAATCTGCATCGGTTATCGTGATCTTCCTGGCGACCCAGAGCCTGAGTGGGAGAATGAAGCTGAAATTGTCACTGATCTGACCTGCATTGCTGTCGTCGGGATTGAGGATCCTGTTCGACCAGAGGTATGTAATGAGAATGTGTAAGGCCCCGATATACTGGTGTGAGCTCATTTCAAACAAGTGCAGGGCAAATCAAGGATTGTTTGAATTTTTGGATTAGGAGTTTGAAACATCTTGCGAAAACAAATGATCCAGTTTGTCTGTAACTGGTAAACTTCTTTAAATTCCATTGGTCATGGCGATTAAGAAATAGGTACATAGATGTGACTATTGCTAAACAAGTGTGTAATGAAAGGCGATGTATAATTAAACATGACTTGACTAGTGTCCTAGATAGAAGAGTGTGCAAATGTATTCACAGATTCACCAAATCATTTCTTTAATGCAGTTTTCTTTTTTTTCTTTTTCTTTTTTTTGATGCTGTCACTTCTGTTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa18149
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 |
---|---|---|---|---|---|
ENSDART00000092725 | Nonsense | 651 | 1174 | 11 | 21 |
The following transcripts of ENSDARG00000023445 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 23 (position 20170204)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 19955311 |
GRCz11 | 23 | 19881654 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTGATTGAGCCYATGGCATGCGAAGGCCTGCGAACAATCTGCAYCGGTTA[T/A]CGWGMTCTTCCTGGCGACCCAGAGCCTGAGTGGGAGAATGAAGCTGAAAT
Long Flanking Sequence:
ACTTAATTATTTTGACAACAGAATTTGGCTCAAGTTAGGGCATCCACTCTTATGGCTAAACACAGACATCTAGCACGACTGCACTCACAGAAACGCAAATTCAATTCCTGCCTTTGCCGATCCCTCTGTAGCCCAGCTTTTCTGTCATATTTCTTCTGTCCTATTTGCAAAACATGAAAATGCCAACAAAAGAGACTTTGGCTCAGGCATTTTAGAGCAGCTAAAACTTAAAACTTAATTTGAGATGTTGTGCAATGAGATTTGTTCACTGGTAACTTGAGGCACATGGGTGTTTTGACCTTTGTATTATTACAATATCCCCCATTAAAATATTTATATATGTTAAGACTTCTCTGCTTCTACTTGTACCATAGATGTTCCTCCATACTTGGTACCAATGGCGAAGCACGAAACTTTAGACCACGGGATCGGGATGAGATGGTGAAGAAAGTGATTGAGCCTATGGCATGCGAAGGCCTGCGAACAATCTGCATCGGTTA[T/A]CGTGATCTTCCTGGCGACCCAGAGCCTGAGTGGGAGAATGAAGCTGAAATTGTCACTGATCTGACCTGCATTGCTGTCGTCGGGATTGAGGATCCTGTTCGACCAGAGGTATGTAATGAGAATGTGTAAGGCCCCGATATACTGGTGTGAGCTCATTTCAAACAAGTGCAGGGCAAATCAAGGATTGTTTGAATTTTTGGATTAGGAGTTTGAAACATCTTGCGAAAACAAATGATCCAGTTTGTCTGTAACTGGTAAACTTCTTTAAATTCCATTGGTCATGGCGATTAAGAAATAGGTACATAGATGTGACTATTGCTAAACAAGTGTGTAATGAAAGGCGATGTATAATTAAACATGACTTGACTAGTGTCCTAGATAGAAGAGTGTGCAAATGTATTCACAGATTCACCAAATCATTTCTTTAATGCAGTTTTCTTTTTTTTCTTTTTCTTTTTTTTGATGCTGTCACTTCTGTTGAAGATTTTTTTTGTTACTTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa24299
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 |
---|---|---|---|---|---|
ENSDART00000092725 | Essential Splice Site | 776 | 1174 | 13 | 21 |
The following transcripts of ENSDARG00000023445 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 23 (position 20168094)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 19953201 |
GRCz11 | 23 | 19879544 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGAGTTCTTGCACGTTCGTCCCCCACTGACAAACACACTCTTGTAAAAG[G/A]TGAGGTTCTCTTTCTAGCTTTTCTAATCTTATCTTATAGCCTTTCTTTTT
Long Flanking Sequence:
TATACGTTCAAAGAGTTGGCAGCAGTAAAACGTTTTAAAGGGTACTTCAAACTTCATTTTACCCTTAACCATTGAAAATAAAGCATTTCTCTTCTCCTCCTGCAGGTCCCTGATGCCATTCGCAAGTGTCAGAGGGCAGGCATCACTGTGCGCATGGTCACCGGTGACAACATCAACACGGCACGAGCCATTGCTTCCAAGTGTGGCATCATTCAGCCTGGGGATGACTTTCTGTGCCTGGAGGGTAAAGACTTCAACCGGAGAATCAGAAATGAGAAAGGAGAGGTTTGTGAAAATTAAATCACAGACATCTCAGCACCGAACCAATATAGACTAAACTGAATCATTGATGTCCGTGCTTTGTTTACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCTGTGTTACAGATTGAGCAGGAGAGGATTGATAAGATTTGGCCCAAGCTCAGAGTTCTTGCACGTTCGTCCCCCACTGACAAACACACTCTTGTAAAAG[G/A]TGAGGTTCTCTTTCTAGCTTTTCTAATCTTATCTTATAGCCTTTCTTTTTCTAATTGTACTTTACAGCACCATATATATTCTTTGTTAATATCATTTTTTTTCAATTTTTAATACAAAATGTGTACGATTTTTAGTATTACCTACAACGGGGTATATGCCGAGCTAGTGTGTTTCCCATAAACTCATAAACTTCCAGTGACCTGTTTTTTTTTTCCATTTTATACAATTCCTTTTACAGCATCGATGTTGTACTGCAATTCAAATACAATCAGTTAAACAGACTTTGGCATTCATTTAGTTGCTGAAGCGTAAAACGAGACAAAAAGCCGTTTACTCGCACGCGCCCGTCAGAATCGGCAGGCTAGCGCAGAAGCTCCATTGAATATACTGGGGTAAAATAAATGCTCAGATTATAAAGACATGGCGGGAGAAAATGTAACTTAATGCAGTGCTTCTTTTACAATCTGAGACCCACTTTATATTAGATATCACTCAACCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa37671
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 |
---|---|---|---|---|---|
ENSDART00000092725 | Nonsense | 784 | 1174 | 14 | 21 |
The following transcripts of ENSDARG00000023445 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 23 (position 20163800)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 19948907 |
GRCz11 | 23 | 19875250 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTTGCTGGGTGATGATGTTGCTGTGTAGGCATCATTGACAGCACTGTGT[T/A]GGAGCAGAGACAGGTGGTGGCCGTAACCGGCGATGGGACCAATGACGGAC
Long Flanking Sequence:
ATATTGTGAAATTTAAAGCTAAACAGTACTAATCAAGATTTTTTTTAGAAAGAAAAGGCTAAACAAACATTTGTGAAATTCAATAGGTTAAGAAAAATGTAATGCCCTTGTGTGAATAATTTTAATAATAAAACTAAAATTACTGCTAAAGTAAATAACTTTTTGAAACTAAAATCTCATTTTAAATGCTGCATTTTTAATATCTGATTATTTAATCCAGATTACATTAATTTAGTTAGTATCCATCTATGTACACAACATGATTTTCACCAATTTGCATCCAATTCAGTCCAATGCAACTGACTGGCTGCATTAGTGTATTTACAATGTAAATTTGACTCCAAGTAGGCTGTAGGCAATCAAAACATATCAGACTGATGTATTCATGTATAGCGTGGTGACAGTGGTTGAGTTCAATGACTGGTCAAGGTTATGCGCTGGCTGCTAATTGTTTGCTGGGTGATGATGTTGCTGTGTAGGCATCATTGACAGCACTGTGT[T/A]GGAGCAGAGACAGGTGGTGGCCGTAACCGGCGATGGGACCAATGACGGACCGGCTCTCAAGAAGGCAGATGTGGGCTTTGCTATGGTAAGCACATCTGACAAACACTTCCCTCTAATCTATTCATATATTCGTCCTTCCGCCCAAGAGGTAGTTAAGAGATGAGTAATGATGAGAGATGAATATTGATTTATTAGAAGCTCCACTTATATCATGTTCAGCCAACAAGGGTGTAAGATCTCTGATGAATAAAAGCCTCTTTTCTCCAACGAATCTGACTTTGATGCATGAATTGCCTGAATCTGGTTCTCTCTTGCCGTCTTCAGGGTATAGCAGGCACTGATGTAGCGAAAGAAGCCTCTGACATCATCCTGACCGATGATAACTTCTCCAGCATCGTGAAGGCTGTCATGTGGGGGAGAAATGTGTATGACAGCATCTCCAAGTTTCTGCAGTTTCAGCTTACTGTCAATGTAGTGGCCGTCATCGTAGCGTTCACCGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa43953
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:
A > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000092725 | Essential Splice Site | 1167 | 1174 | 21 | 21 |
The following transcripts of ENSDARG00000023445 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 23 (position 20127758)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 19912865 |
GRCz11 | 23 | 19839208 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCCTCACTCTGTTTTCTTTCTGTGTACTCGTCCCCCCTCTGTCCTTGTGC[A/G]GATGCGGGTAGTGAAAGCGTTCCGTAGCTCCCTTTATGACGGAATCGAGA
Long Flanking Sequence:
GTAAAGACCTGAGGACAGGTGTGATGTGCTCTTACTGATTCAATAGATGAAAGAAACTCAATCAGGTTTTGAACAAGGGTGAGTAAATGATAACATATTTTTTCAGATTTGCTTGAAATATTCCTTTAAAGCCTAAAACTAAAGCATACTTTTGGTTTAAAACAGCAAATTGAGTGATACAAAAGTTCCCAGTGCTGACCCAAGAAATTCCTATTCTTTGCAGTTCTAATTGGTGCCACTAAAAATGAAACATTGCCCATGAAATACTAGCTACTCAAAACAGCTAACAAACTTCTTGAGTGTGTATCTTGAAGCAACCTGATCTTGAGCTGTCTGTGCATTGTAAGGCATGTCCAGAACAGGGTCAACGATGTTGCGGGTGTTTTCTATCACACATGTACTGAGAGATTTCTTTGCTCCTCCCTCCTCTATCTCAACCCTCTCTCTTTGTCCTCACTCTGTTTTCTTTCTGTGTACTCGTCCCCCCTCTGTCCTTGTGC[A/G]GATGCGGGTAGTGAAAGCGTTCCGTAGCTCCCTTTATGACGGAATCGAGAAACCCGCGTCCCGGAATTCCATCCACAACTTCATGGCGCACCCTGAGTTTCTCATCAACGACTACATTCACAACATCCCGCTGATCGACGACACCGACATTGACGAAGAATCAGAGTGGTCAAGGCACAACCACCAGTTGCATCCGGCCTTCCGAAAGCCCCCTCCTCCTCCAGTCCAGCAACCGCAGCGCTCCCGCCCTCCGCCCCGTCCCTACCGCCAGTACAGCCTCCCTGCCACACCAAACCGAAACAACAACGCCATCGAGAGCACCGTCTACCACCTGAACCTCCCCACAGGCCCCGAAGGCCACTGGACATCCCCGCCCCAAAAGCTGAATCCCCTCCTCGCCCTGGAGACCTCACTATGACTGAGGGACGAGACCCTAAAAACTTTGAGGATCTGTGTGGATCAGGCTGATGGGGGAGGCTCCTAAGGACATATTTTAGGTG
Associated Phenotype:
Not determined