ZMP
Q502M3_DANRE
Ensembl ID:
Description:
LOC553451 protein [Source:UniProtKB/TrEMBL;Acc:Q502M3]
Human Orthologue:
SPTBN1
Human Description:
spectrin, beta, non-erythrocytic 1 [Source:HGNC Symbol;Acc:11275]
Mouse Orthologue:
Spnb2
Mouse Description:
spectrin beta 2 Gene [Source:MGI Symbol;Acc:MGI:98388]
Alleles
There are 6 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa21982 | Nonsense | Available for shipment | Available now |
sa15290 | Nonsense | Available for shipment | Available now |
sa21981 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa21982
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 |
---|---|---|---|---|---|
ENSDART00000098492 | Nonsense | 614 | 1416 | 13 | 22 |
Genomic Location (Zv9):
Chromosome 11 (position 44162089)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 11 | 42887500 |
GRCz11 | 11 | 43179581 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCATCCGTGACCGTGTGGCCCACATGGAGTTCTGCTATCAAGAACTGACA[C/T]AGCTCGCAGCCGAACGCCGCGCTCGTCTAGAAGAGTCCCGCCGCCTCTGG
Long Flanking Sequence:
GAGAAGCTTGTGGAAGGAGACACAAAACATTTGACCAAAGTTTAAAAGCAAAGCAAAAAAAACAAAACAAATAAATGCATGTAAACTTTTGACTATCTAGAAATTAATCAAATGTCTCAAAAAAAAATCTCTCATTATCCTGCCATTTAGCAAATGTAAAATGTAAATCATTTAGGTAATCCTAACAGACCTAAAATAGTAAACTGACCCAAATTGACCATCAGACATTTAAAAAAAATAGTATGTTCTTTTTTTAGAGTGTATGTAAAATTATATATATATATATATATATATATATATATATATATATATAATATCCCCATAATAATATTGCTCAGAATGCAGATGAAACCCTAGAATCCCAAGATGCCAATCACCCATTTTTTCTCTGTCTTCTAATGCTTTCTCCTCTCTGTCCTGCTATAGGCTATAAACCGTGTGACCCTCAGGTCATCCGTGACCGTGTGGCCCACATGGAGTTCTGCTATCAAGAACTGACA[C/T]AGCTCGCAGCCGAACGCCGCGCTCGTCTAGAAGAGTCCCGCCGCCTCTGGAAGTTCTTCTGGGAGATGGCAGAAGAAGAGGGCTGGATTCGAGAAAAAGAGCAGATATTATCCTCCGACGACTGCGGGAAGGATCTAACCGGCGCCGTGCGTCTTTTAAGCCAACATCGTGCTCTGGAAGACGAAATGAGCGGTCGTTCTGGACACCTCCAGCACACTGTACGCGAAGGCCAAGCCATGGCTGATGCTGGTCACTTCGGTGAAGCTAAAATCCGAGAACGCATCGCTGACGTCCAAGCGCAGTGGGCGGCTCTAGAACAGCTTGCATCTGTAAGAAAAACCCGTTTGGAAGAAGCGTGTAGCCTTCATCAATTCCAAGCTGATGCTGATGACGTCGACACGTGGACGTTAGACGCTCTTCGAATCGTTTCCACCGCTGACGTCGGCCATGATGAGTTTTCAACCCAAGCTTTGGTCAAGAAACATAAAGACGCATCAACT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa15290
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 |
---|---|---|---|---|---|
ENSDART00000098492 | Nonsense | 666 | 1416 | 13 | 22 |
Genomic Location (Zv9):
Chromosome 11 (position 44161932)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 11 | 42887343 |
GRCz11 | 11 | 43179424 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATTATCCTCCGACGACTGYGGGAAGGATCTAACCGGCGCCGTGCGTCTTT[T/A]AAGCCAACATCGTGCTCTGGAAGACGAAATGAGCGGTYGTTCTGGACACC
Long Flanking Sequence:
AAAATGTAAATCATTTAGGTAATCCTAACAGACCTAAAATAGTAAACTGACCCAAATTGACCATCAGACATTTAAAAAAAATAGTATGTTCTTTTTTTAGAGTGTATGTAAAATTATATATATATATATATATATATATATATATATATATATATAATATCCCCATAATAATATTGCTCAGAATGCAGATGAAACCCTAGAATCCCAAGATGCCAATCACCCATTTTTTCTCTGTCTTCTAATGCTTTCTCCTCTCTGTCCTGCTATAGGCTATAAACCGTGTGACCCTCAGGTCATCCGTGACCGTGTGGCCCACATGGAGTTCTGCTATCAAGAACTGACACAGCTCGCAGCCGAACGCCGCGCTCGTCTAGAAGAGTCCCGCCGCCTCTGGAAGTTCTTCTGGGAGATGGCAGAAGAAGAGGGCTGGATTCGAGAAAAAGAGCAGATATTATCCTCCGACGACTGCGGGAAGGATCTAACCGGCGCCGTGCGTCTTT[T/A]AAGCCAACATCGTGCTCTGGAAGACGAAATGAGCGGTCGTTCTGGACACCTCCAGCACACTGTACGCGAAGGCCAAGCCATGGCTGATGCTGGTCACTTCGGTGAAGCTAAAATCCGAGAACGCATCGCTGACGTCCAAGCGCAGTGGGCGGCTCTAGAACAGCTTGCATCTGTAAGAAAAACCCGTTTGGAAGAAGCGTGTAGCCTTCATCAATTCCAAGCTGATGCTGATGACGTCGACACGTGGACGTTAGACGCTCTTCGAATCGTTTCCACCGCTGACGTCGGCCATGATGAGTTTTCAACCCAAGCTTTGGTCAAGAAACATAAAGACGCATCAACTGAAGTGGCTAGCTATCGTCCAGTCATCGACGCTCTTCATGAACAGGCCCAGACTCTTCCTCCTGAGCAGGCGAACAGTGCTAATGTTAGCGAGCGGCTGGCGGGCATCGAGGAGCGTTATAAGGAGGTTTCGGAGTTGACCAGGCTGAGGAAGCAGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21981
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 |
---|---|---|---|---|---|
ENSDART00000098492 | Essential Splice Site | 1245 | 1416 | 16 | 22 |
Genomic Location (Zv9):
Chromosome 11 (position 44150164)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 11 | 42875575 |
GRCz11 | 11 | 43167656 |
KASP Assay ID:
2260-4699.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AACATTAACGCTGACCGCATACAAGAGCGTGCAGCCTCCATTGATGACCG[G/A]TAACAAGACACCACTGTTGGGTGCCATTACTTCCCAACTATCTAGTTACT
Long Flanking Sequence:
TTCATTCATTTATATTCAGCATCCATCCATATCCATCCATCCATCCCTGCATTAAAGCATAAAACTTACTTGTATAGCAATATTATATCACTCTACCAACCATCACACTTTCCCTTGCCTTTCCACAAACAACTTGGTTAGTTAATTTAATATTTTATTGCTATATCAGCGTCCAAGGCTTCATCACAAAAACAATTTGCAGTAATACAGAAGTTAAAAAAAAAATACAACTCCAAACGTTTACCACATTTTTCTAAACAAGCATCAAGGTTTTCCTAACTCCTCGTCTGTCTGCAGGAGTATGTTCTGGCCCACACCGAGATGCCCACCACTCTTGAAGGAGCCGAAGCTGCCATTAAGAAGCAGGAGGACTTTATGACCACTATGGACGCCAATGAAGACAAGATCAACGGTGTGGTGGAGGCCGGCAGGAGGCTGGCCAGTGATGGAAACATTAACGCTGACCGCATACAAGAGCGTGCAGCCTCCATTGATGACCG[G/A]TAACAAGACACCACTGTTGGGTGCCATTACTTCCCAACTATCTAGTTACTGTAATTAAATTGCTTTTCCGCTGAAGTTTTTAGGTAATTTAATTACAGTTACTTTTAATGCACTTAAATCCTGATTTAATGTCTTAATCCTGTACACAAATTCAACAGTTCTATACAAATCAATTCAGAGAAGTTGACTATATTGTCTTTGCATTGAGATTTATGTAGATTAGTATCAAGTCAAGTTATTAAATTACTAATTCAGTAACTAGGTTACTTTTAAGACAAAGTAATTAGAAAATTAATTTAAATACAGTTATATTGATGTAATTTGGGGTGTCACAGTGGCGCAGTGGGTAGCACGATCACCTCACAGCAAGAAGGTCGCTGGTTTGAGCCTCAACTGGCTTAGTAGGCATTTCTGTGTGGAGTATGTATGTCCTCACCATGTCCGTGTGGGTTCCTCCGGGTACTCCAGTTTCCCACACAAGTCCACAAGTGTGTATGGAC
Associated Phenotype:
Not determined