ZMP
st8sia3
Ensembl ID:
ZFIN IDs:
Description:
sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase [Source:RefSeq peptide;Acc:NP_00110
Human Orthologue:
ST8SIA3
Human Description:
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 [Source:HGNC Symbol;Acc:14269]
Mouse Orthologue:
St8sia3
Mouse Description:
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 Gene [Source:MGI Symbol;Acc:MGI:106019]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa29489 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa37200 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa29489
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 |
|---|---|---|---|---|---|
| ENSDART00000066623 | Nonsense | 229 | 374 | 3 | 4 |
| ENSDART00000128585 | Nonsense | 239 | 384 | 4 | 5 |
Genomic Location (Zv9):
Chromosome 21 (position 2113023)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 1762456 |
| GRCz11 | 21 | 1788280 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTACAACAACCTGCTGACCATCCAGGACAGGAACAACTTCTTCCTCAGTT[T/A]GAAGAAGTTGGACGGCGCCATCTTATGGATCCCGGCCTTTTTCTTTCACA
Long Flanking Sequence:
CTTTACCTGTTAAAAGCGATTAGTTAATGAATTTAATTGAATCATTAGTGACTCTGTTGACTCTATTCTGATGTTGTTCTTGTTGTGTCTATTTTCCAGTAAAGAGATCGCGCAGCATATTGACGTGCCGCACAACTTCACCCTGACCAAGAACAGCGTCCGCGTGGGTCAGTTAATGCACTACGACTACTCCAGTCACAAATACGTCTTCTCCATTGGGGAGAACCTCAGGTCTCTGCTTCCGGATGCTTCTCCCGTCCTCAACAAACGCTACAACACTTGCGCGGTAGTGGGAAACAGCGGGATCCTCACCGGCAGCCGATGTGGTCCTGAAATCGACAAATATGACTTTGTCTTCCGCTGTAATTTCGCGCCCACCGAAGTCTTCCGTCGAGACGTGGGGCGCCGGACCAACCTCACCACCTTTAACCCCAGTATTCTGGAGAAATACTACAACAACCTGCTGACCATCCAGGACAGGAACAACTTCTTCCTCAGTT[T/A]GAAGAAGTTGGACGGCGCCATCTTATGGATCCCGGCCTTTTTCTTTCACACGTCTGCCACAGTGACGCGAACACTTGTCGATTTCTTTGTCGAGCACAAGGGGCAGCTGAAAGTACAGCTAGCCTGGCCGGGAAACATCATGCAGTATGTCAACAGGTAAGAGATTTTGAGATTGTTTTAATTTTAAGATGTAAAGTTGCAATTGTATTAATTTGTGGAATGTAAACTCACAATTCTGTCAGTAAAACTTGGATTTCACAGAAAAAAAACTCAGAATTGCGGAATGTAAACTCACTTAGAACTCCGACACTAAACACTCGGAATTCTCAAAAAAAAGTCGGAATTGCGGAATGTAAACTCACATACAATTCTGACATTAAAAACTTTGAATTCCCCCAAAAAAAGTCGTAATTGCGTAATGTAAACTCACAATTCCGACATTAAAAACTCAAAATTCTCAGAAAAAAGCAGAAATTGCGGAATGTAAACTCACATACAAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa37200
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 |
|---|---|---|---|---|---|
| ENSDART00000066623 | Nonsense | 333 | 374 | 4 | 4 |
| ENSDART00000128585 | Nonsense | 343 | 384 | 5 | 5 |
Genomic Location (Zv9):
Chromosome 21 (position 2106106)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 1755539 |
| GRCz11 | 21 | 1781363 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCCTTCGGCTGGGACCCCAACACCGGCAAGGAGCTGCCGTATCATTACTA[T/A]GACAAGAAGGGCACCAAATTCACCACCAAGTGGCAGGAGTCGCACCAGCT
Long Flanking Sequence:
TGTTAAATGACACTGTTGCGTGCAGCTTTTTATTTTTATATTACTCTGTAACATAAAGTAATATAATGTTTAGACAATTTATGTTAGCGCTATGGAATCAATGCATTCGGCTATGAATTAATAAAATGTATTGAAAATTATTTTTTTGTGTCTTTTTAACTAGTAGCCCGAACCACGGGTATTCGAGTAACTCGAGTATTGTTTTGAAAAGAAATCGATTAGCAGAAACCAGTAGTCCTGCAAGCGCTACCGAACACTGACTGTATGTATCCTGAGCTCCTGAACAAACTTCCCAGGGGAATAAAGCTGATTCTGATAACACCTCTCTGCTGTTTTGTGTGCAGGTATTGGAAAACGAAGCAGCTTTCTCCGAAGCGTCTGAGCACGGGGATCCTGATGTTCACGCTGGCCTCGTCTCTGTGTGAACAGGTGCATTTGTACGGATTCTGGCCCTTCGGCTGGGACCCCAACACCGGCAAGGAGCTGCCGTATCATTACTA[T/A]GACAAGAAGGGCACCAAATTCACCACCAAGTGGCAGGAGTCGCACCAGCTGCCCACCGAGTTCAAGCTGCTCTTCAAGATGCACGCAGACGGAGTCCTCAAACTGAGCCTGTCCCACTGCGCCTGAAGGTCAGAGGGCAGAGGTCACGGAGTCAGGGCCGGAGTCTCGGTTGCACTAATGGATATTTGTGGTGGTTTTATATCAGCATCGAGCTCCTCAGTGGTGTGTTGGAACTAATTATGTCAGAGTTGTGATGGAAAGGAAAGTTGGTCACACTTTACAGTAAAGTCCAGTGCATTATTGGGTGTTTTCAAGTACAAAACATTCAACTTAATGAGGAAACAACGAGAAATGTTCCATTCATTAATATGTGCTGAATTTAAATAAACTCATTAAGCAAATTTTCTGCTATGAAACTCACGCGCAGGCTGATAGATCACCAAATCTGCTTCTGCATCATGGCGCAGGGGACTGGTTGCTGTCTCCTCGACAGCCAATGA
Associated Phenotype:
Not determined