ZMP
snapc1b
Ensembl ID:
ZFIN ID:
Description:
snRNA-activating protein complex subunit 1 [Source:RefSeq peptide;Acc:NP_956548]
Human Orthologue:
SNAPC1
Human Description:
small nuclear RNA activating complex, polypeptide 1, 43kDa [Source:HGNC Symbol;Acc:11134]
Mouse Orthologue:
Snapc1
Mouse Description:
small nuclear RNA activating complex, polypeptide 1 Gene [Source:MGI Symbol;Acc:MGI:1922877]
Alleles
There are 4 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa15527 | Essential Splice Site | Available for shipment | Available now |
sa14120 | Nonsense | Available for shipment | Available now |
sa8508 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa24943 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa15527
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 |
---|---|---|---|---|---|
ENSDART00000003888 | Essential Splice Site | 44 | 350 | 2 | 10 |
The following transcripts of ENSDARG00000003827 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 13 (position 37996162)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 13 | 37472974 |
GRCz11 | 13 | 37598864 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
NNNGTTGGTATTTTTWTTTTTCAATGTTTATTTCTATTTTTTTCCCTGCA[G/A]TGGTAAACAAGAGCCAAGAGAGAAAAGGAYTTTTGCTCGTCTGGTTCTGT
Long Flanking Sequence:
TTTGATGATGAGTAAATGTTGTACACTACAGTGGTCTTCCATTCCGCCTAAGCACAACCCAAAGCAATGACCGTTTAAATGACAACATTATGACACAGTTTTGACAAGTTTGGTACAACATTGTAGGAAGGTCGCTGAGGCAACGTTGTGTGTTTGTTGATATATCCACTAATCTATATTAGAAAACGCAGTGCTTGTGGCTGATCAGCAACATTTCATGACCGATTGATTGTAAATAAGATTATTACCCTGTTTTACTATGTTATAACTGTGTTTAGTGTTTAAAATTACACATGAACCACATGAAAAATAATGAATGCAAAATACATATTTTCAGTTTTCCACAAATTCCAAATGACATTGAATTATAACCGTGTATTCAATTTACAAGAATATATCCACATTTTTAGTTTAAAACACTTTCCATATCATGTATTTTGATTGTTGACTATTGTTGGTATTTTTTTTTTTCAATGTTTATTTCTATTTTTTTCCCTGCA[G/A]TGGTAAACAAGAGCCAAGAGAGAAAAGGATTTTTGCTCGTCTGGTTCTGTCTGTGGCGTGTCAGTATTTCTTCCCTCCATTCACTTTCCAGATCAGAGTCGGGGCCCTTTATCTGCTGTATGGGCTCTACAACACACAGCTCGCCACACCCAGAGAGAAGGTGTGCTGTCATTCTATTCATCTTTACTAGCCCTCTGGGTTTCTGTTTGTCTCAGGGTTTCTGTTTACAGTAGTTTTTTGGTTACTAGAGCCTGAGGTTATTCACTAATGCATCATTACAATCTTATAAAACACATACACAAAATTGTTAAAATGTCTTAACCCCTATGTGCTATTAGGGATGTTTTTATTCACTCTGGGCTAATTTTAAGTGTCAAATTGGCCAATTTGTTTTCAGCAAATAGAATGCTTTGAAAATAAAATTAAAAAAAAAGATTCAAAAATACACTCTGGGCAAATTTACTACCGTTTCGTTATGTTGGTAGTTGTTTTTTCCCCAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14120
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 |
---|---|---|---|---|---|
ENSDART00000003888 | Nonsense | 125 | 350 | 3 | 10 |
The following transcripts of ENSDARG00000003827 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 13 (position 37993942)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 13 | 37470754 |
GRCz11 | 13 | 37596644 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATGCAGTTTGAGAGGGAWGCRATGAACTCWCAACATTATGATGTTACATA[T/A]ATCTTCAGAAAGCTCCTGTCAGAAAAAGCTTTCCACTTTACGGCCATGCC
Long Flanking Sequence:
TTTTACTGTATAGAACTCCATATAAAAGCCAGAAACGTTTTGCACAGGCCTATCTAAAGCATTAATGGTACCAACTGATGATCAACAGTAAAAATGACACATTTCCCAACAGGAAAAACCATCAACAATCAAGAGTACGTGAGTATATGGTGTCATGGCTTTGCATTTGATTTTTAGGTCAGTGGGAGAAAAACAGCCACCAACTTAACGAAAGAGGAGTCGATTTACTATACTATACATGAGGGTTTAATGTGAACATGTGTGTGTTTTTTGAGCTTACCAATTATCATTGCAAACACAAAGCAACATTTGAAGATATAAAATATTCTTAATTTGACATGAAAGGGTAATTAAATGACGATGTTTTGCATTTAAATGCAACTCATGCTGTGTTTTTCTGCAAATTCTTCTTTTTAGATTCGCATCGCTCTGAAGGACTGGAAGGATGCTATGCAGTTTGAGAGGGATGCGATGAACTCACAACATTATGATGTTACATA[T/A]ATCTTCAGAAAGCTCCTGTCAGAAAAAGCTTTCCACTTTACGGCCATGCCAAACCTGGTAGGTTACAAAGCTCTGTGTTTATGCATATCAAGTGTAATCAAGTGTAAAAAATGGAATTAATTACACAACATTTTGCCCAGAAAACATTTTCGACCTAATTTAAGCCTATATTTATTGTTGTCCTCTTGAAATTGATGAAATTGCGTCTTAATTCCAGATATAAACAGTATCCAACCAACATTTTACTTTGTCCTGAGTAATTAGTAGTATGGTAGTTTAATCATTGCTCATTATTGTGTAATTTCTCTGTAAACCATTTACAAAGTTGGCTACCGTATGATGCATAGTCAGTTAGAATAAATACCAATATGGATCAGATCATATGGAATGGGTAGAGTGTTAAAGGTGACCTATTATGCCCTTTTTTCAAGAAATAAAATAAGTCTCTGATGTCCTTAAAGCAGGGGTCTCGCTCGCTCGCCCGCGGGCCATTTGCGGCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa8508
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000003888 | Essential Splice Site | 180 | 350 | 4 | 10 |
The following transcripts of ENSDARG00000003827 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 13 (position 37991754)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 13 | 37468566 |
GRCz11 | 13 | 37594456 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CGATCCACCGTCACGTCCACARCAGCTTGTTAACACTGACCTGCTAGARG[T/G]GAGTCATGGCAGCAACRTTRAAATGAATAAAAAATGCATTGCTACAGCAT
Long Flanking Sequence:
CTTTAAATTCAAATCCAGAGGGCGGAGTTACAAAGCCTGTGCCTCTTTGAGATAGTCACTAATGGGTGGGACGACAAATACATATACTGATGACAGATTGTCAATCTAAGTGTTTCTGTGGACAGTTTTTATCAAGTGTGATTACATAAAATAGAATTAATATATTTTTTACCAATAGAGGCTGGATATATTCACACAATGTTGCCACAAAGATGTGTTGAAACCCCTTATGAAAGTGATTTTTACATAATAGGTCCTCTTTAAATGTTGCCATTATGGGGCAATATATTTTATTGTGCTGTGTTTGTCCAAGATGTTCAGGTTAATCCGAGTAAACAGATTTAACTTGATGTTTGCAAACTCTGCAGGTGTTTATTGTGCATATTTACAGCTCTGCTCTAGGGAAAAGAAGAAAGATGGGAAGAGGAAAGATGTCTGTGAAGAATTTGTCGATCCACCGTCACGTCCACAACAGCTTGTTAACACTGACCTGCTAGAGG[T/G]GAGTCATGGCAGCAACATTGAAATGAATAAAAAATGCATTGCTACAGCATGTTTCATTAAAGGTCCAGACTGTAGAAATTGCATTTAATTTGTAATGTTTGAAGGTTTTGGAATGCAATGTATTTGACAGTGCCATTATTGTAAAAAAGTGTAAATTGCTTGCAAATGTAGGAGATTTTAAAGTGGTTAACGTGTAGTTTCTCTGGTCCACAGGAAATTACAAATATCCACACACATTATGAGGGTTTGAAGAAAGCTGTATTCACAGAACCAGATCCAAACATGGATCTGATCCAACAAAATCTGGTTCCCAAACTAAGCAGTTCCATCATTACCTTTTCAACCTGGCAGAAGCATCGCGCGGTGAGTATTGTGCTGGATTTCTTCCTTCATTCATTCATTGATTCATTCATTCATTTTCTTTTCGGCTTAGTCCCTTAGTCGCCAAAACAGAATTACCACCAAGTTATCCAGCATATGTTTTGTGCAGCGGATGCCCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa24943
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:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000003888 | Essential Splice Site | 245 | 350 | 6 | 10 |
The following transcripts of ENSDARG00000003827 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 13 (position 37988523)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 13 | 37465335 |
GRCz11 | 13 | 37591225 |
KASP Assay ID:
554-7295.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTAGCAATTTGAAGAGCAGGATCCTGGAGAAGGACCTTCGAATCAAGAAG[T/A]AAGAGACTGAGATTAAAAATGTTCTTCATTTTTCTCTCTTTTTAATTATA
Long Flanking Sequence:
ATCAAGTAAGCACTAAATTTGGCACAAAAGACATACCTAATATAACACAAGATAAACTTATATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATATAGACAATATCCAAAAGTATTAAGTTTTTAACAAAAATTGGGAGAAATCTTAATTTAGCATCACAATAGAGTGATTTATGCGTTTACATGATTAAAATACATTGTATATATTAATATAGTAAATGGCGTTATTAAAGTTACACATTTAAACATGTATCAATATGTCAAACTCACTATTGTTATTGTATGAAGCTTTTTAATTTCTAATCTATTTAGAAAACTTTCATCCCAAACATTACATTTTAGTCTATGTATGCATCAGTTTTGGCACAAAATCCTGACTACGCAATTTGTTTATTTGTCAATGACTGTCTAACACAACTTTTTTTTTTTTGTAGCAATTTGAAGAGCAGGATCCTGGAGAAGGACCTTCGAATCAAGAAG[T/A]AAGAGACTGAGATTAAAAATGTTCTTCATTTTTCTCTCTTTTTAATTATATATAGTGCTTCATTCCCTACTTCAGCAATGCAGAAAATAGTGTAGAGATGTTGCAGTACTCTTGTTTTACCACAGGGTTGTGATATTATCTGTGTTTTCTCTCCGTCTCTTTCCTAAAGAGCTCCAGCAGAGCCCAGCTGCTAGCATCAATCAAATCCAAATCATACGGACAAGTTGTGGAGGTAACATGAATGCATAAAATAAATTTGATTTAAAACATTGACATAGCCTTTACAATGTCCCTGTTATACTTTTTTTAAGGTTGACAATTCACATGATTTGGAGTTTTTCGACAATAGGTTTACATCTATCTAAGCTCAGAAAACACTTTAATTCCTCAATATATACGTTGCAGCATCAGCTCTTTTCTCAAACAGTTCAAGAATCCAGTTTCATTAAAATCATGAATATTTCACAAATCTGAAGAATAATCATATGTTTTTAAAGTGC
Associated Phenotype:
Not determined