ZMP
whsc1l1
Ensembl ID:
ZFIN ID:
Description:
Wolf-Hirschhorn syndrome candidate 1-like 1 [Source:UniProtKB/TrEMBL;Acc:A5XBQ2]
Human Orthologue:
WHSC1L1
Human Description:
Wolf-Hirschhorn syndrome candidate 1-like 1 [Source:HGNC Symbol;Acc:12767]
Mouse Orthologue:
Whsc1l1
Mouse Description:
Wolf-Hirschhorn syndrome candidate 1-like 1 (human) Gene [Source:MGI Symbol;Acc:MGI:2142581]
Alleles
There are 9 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa14276 | Nonsense | Available for shipment | Available now |
sa16134 | Nonsense | Available for shipment | Available now |
sa21713 | Essential Splice Site | Available for shipment | Available now |
sa11365 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa14276
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 |
---|---|---|---|---|---|
ENSDART00000091115 | Nonsense | 46 | 1521 | 1 | 22 |
ENSDART00000138045 | Nonsense | 46 | 1361 | 2 | 21 |
Genomic Location (Zv9):
Chromosome 10 (position 20668384)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 20629798 |
GRCz11 | 10 | 20587179 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GACAGGAGGAYGTCKATGAAGCCATCAGTGACCCAGGAGATGATGGAGGA[C/T]AGCAAAACTTTGATTCTCCTCTGGAGTCCGGCTTTTCATACCCMGCTGAA
Long Flanking Sequence:
CATGCAAAATATGATTTAATTTAATTAATATTAATGCATTTCTGTGCGATGAAATTAACGGTGAATCAAAGGAATTTAATGTGACGAAAATGGCACTGCACAGCTTTGATTGGATTCCAATTACAAAATCTCATTTATGCATGAGTTTTCCTCTTTAAAAAATCTTAAAAAGTTGGCATAACTTCGAGCAGATTAGAGGAAACTTTATTAATCCCTTGGGAGGGAAATTGCAGCTTTGCAGAACAGCTTCATTGGCATTAGCCAAAAACAAGATGCATGTTTTAAATGTGTAATATATGCACTCTGTCTTTATCTCAGCAGGCCCTGTAAGAAAAAGGGAAACTTAAGGATGCTGGAGCAGAACAATGGATTTCTCCTTCTCTTTCATGCAAGGGATCATGGGAAACACAATTCAGCAACCCCCTCAGCTTATTGACTCCGCTAACATCAGACAGGAGGATGTCTATGAAGCCATCAGTGACCCAGGAGATGATGGAGGA[C/T]AGCAAAACTTTGATTCTCCTCTGGAGTCCGGCTTTTCATACCCAGCTGAAGACGTCCCAGTCATTACAAATGGTTACCCTACGGGTGTAGGTACCTATGAGCAACAGGCCAAGTTTGCCTTGTACTCTCAGTTCCCCAATGGTTCAGCTAATGGCTATGGTGCCATACGAAACTATGGAGATCACAGTTTGCTGCTTGGTGAGGGCACAGTATTGAGACCACCAGTGGTCCAGGAAAAACCTCAAACTCACATCTCACCTCCATCTCATTCCCATCATCACCAGCAGCCTCATCATCCACATCACCACCACCATCAGCAGCAGCAGCAACACCACCCACACAACCCACCTCTGTTACCTCACCACCACCACCACCACCCACCTCCTGCCTCGCACCTAATGCCTCAAGTCCTGCCACCTCCTCCTCCCTTGCTCTTACCTTCATCTCCACCCCTTCTCTCACCTCAAGAAAGCACCATCTCCAACCCCATTGGGCAACCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16134
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000091115 | Nonsense | 369 | 1521 | 2 | 22 |
ENSDART00000138045 | Nonsense | 369 | 1361 | 3 | 21 |
Genomic Location (Zv9):
Chromosome 10 (position 20667322)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 20628736 |
GRCz11 | 10 | 20586117 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TATGARATTGGTGACTTGGTGTGGGCAAAAGTTGGGACGTATCCTTGGTG[G/A]CCATGCATGGTGTCATCAGACCCACAGTCGAACGTTCATACACGTATTAA
Long Flanking Sequence:
TCATTAAGACCTATCAGAATGGCAGGGAGCTCTTTGAGTCCTCGTTGTGTGGAGACCTCCTGCAGGAGTTTCAGGCCGGCGAGGATTCCAGGAGACAACATGAGCAGAAGAAGGAGAAGAGGAAAAAGAGAGGCAGCAGACATGGCGCTGGTCATGAAGAAAGCCAACAGCCAAGCAAAGTTGAGGAGGAGCGGTCAGTTGTGGTGCACAACCCTGTACAGACCACTGAAAGTCAGGTCGCTTTCAGAGAAGAGCAGCAGCCACAGTCAAGCCTCAAAAGCCCCAAAGCAGAACTCAAGGAGCAGAAGGTGAGTGTCCTGTTTCAGACACAATAACATGCGAAAAACCTGTAGTTTATAAGATTCTGTTCATCCAAGCATGTGTTGTCTTCTTGTTTAGGTGGAAAAGCACTGTCCTTCGGTCATCACTAGCACTGGCACTTCTCAAGAGTATGAGATTGGTGACTTGGTGTGGGCAAAAGTTGGGACGTATCCTTGGTG[G/A]CCATGCATGGTGTCATCAGACCCACAGTCGAACGTTCATACACGTATTAATACAAGAGGTAATTAATCTAAAACAGTATAATGCAAGTAGAGGTTCTTAAGGGGCCATTCACATTGCATCTAACAGCGTGTGGAAAGTGTGAGACACGTCGCTTCCTTCACCAGTTTTAATGTGCTTTGCGCTCGCGCTTCCATGTCATTTGTCATTACTAGGTGACTATCGAACATTTTCTCAGAGTATGAAAATCTGACAACATTGCTGCAGCTCTGATACAAGTTTTATTAATGGAAAAAGCCATAAGCTGTGGACCTCCATTGGAAAGAACGAACTTGTGCATAGAAAAGACGTCAAATGTGAACGGGTACTAAGTCTGGTAAACACTACACAAGCAATTTTAAAACACTAGTGCCTGTTTTCACTGAGGGGTACAGAACAGTACAGATTAGAAGTCAAACTTGCCTTTCCACTGCCATAACTTGTGTGCCTCAGAAAGTTGCCAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21713
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 > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000091115 | Essential Splice Site | 857 | 1521 | 10 | 22 |
ENSDART00000138045 | Essential Splice Site | 857 | 1361 | 11 | 21 |
Genomic Location (Zv9):
Chromosome 10 (position 20658399)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 20619813 |
GRCz11 | 10 | 20577194 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATCCAACAGTGGAAAAGAGAGTGAAACTGTGTGTCAGGAGTGCAAGACAG[G/T]TGAACAATACGTCTGATTTGGGATCAGATTTTTAAAGGCTATTTTGAAAC
Long Flanking Sequence:
AGTATTTTAAAAAACAGTTTATTTCTGTAATGTCAAAGTTTAGAAATATTTAAGTTTTGGTGTTTTTGTATATCCCCTTCTGGATTCTATGATGAGGGGAAAGTAAAACAAAGAATTGTGAACAATGTGATGGTCTTTACTTGTACATTTAATGAGTTATGTCTGATTCCACCTTCTGTGGTAAATGGTTAATTTTACTGGTTATATTGAATCTGAAATGTCTTTGATAAAGTTTAATTTGAAAGATGAGTTCATACTGTTATTTAGTGGTATTAATGAAAGTTGCAGGATCCACAGAAATGTAACGCAATCATCAGACTTTTTTGGATGTAATTAAAATGTCATGTTTTGGTTTCACTGTTCAATGTCTCAGGTGTGTGAGACGTTTGGGGATTCTTTGGTAAGCTGTGAGGGAGACTGTAACAGGCTGTTTCATCCAGAGTGTATGGGATCCAACAGTGGAAAAGAGAGTGAAACTGTGTGTCAGGAGTGCAAGACAG[G/T]TGAACAATACGTCTGATTTGGGATCAGATTTTTAAAGGCTATTTTGAAACTTGTTTACATGAAAATTAAGCTTGTACAATGAACGGCTCATTGCTGTAATTTTCTTAATGTGAGTGCTGAGAATTGAATGTAATCTTAATCTGTTTGTTACTGTGTCTTTCTGCAGGTTCCCACCCTTGTTTCTCCTGTAAGGTCACGGAGGGTGATATGAAGCGGTGCTCAGTAAACGGTTGTGGACGTTATTACCATGAAACCTGTGTCCGGAAGTACACTGGCTCCGCCTCTGACACCAAAGGCCTGCGCTGCCCTCAGCACAGCTGTGCCACTTGCTGTCTCGACAGAGACCTTCAAAAAGCTGGCAAAGGTACACAACAGATATAAGAAATATTTGAAAAATTAGACTGATGAAATGAAAAAATTGTGTTGGGCAGATTAAAAGATTAATTGCATTCAAAATAAAAGTTTGTTTTAAGATCAATACAGTGTTCAGCATAACTGAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa11365
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 |
---|---|---|---|---|---|
ENSDART00000091115 | Essential Splice Site | 1044 | 1521 | 14 | 22 |
ENSDART00000138045 | Essential Splice Site | 1044 | 1361 | 15 | 21 |
Genomic Location (Zv9):
Chromosome 10 (position 20646386)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 20607800 |
GRCz11 | 10 | 20565181 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGAAGCCCCACTATAAGCAGATAGTCTGGGTCAAGTTGGGCAACTACAGG[T/C]ACGTCTTTTATACTGTTGGAAGTCTCCTCCGATGCATTTAACTAAACTAA
Long Flanking Sequence:
TGCATCACTGCATGTTTCCCATAATGCCCCCCTTTGATCATTCACTATTGGCTGCTTATTAAATCACACTGCGCGAAACAAGCACATTAACATGATGCATAAAAGGCGTCAGTCAACAAACCATGTCTTTGAGCATGTCGAATTGAGCTTTACATTGGCATTCATAATCTAGACATTTTTCAGAGGCACATGTTGATCTAAAACTAACGACACAGAAATGTCTGATTCTGACATGCTCACAAATGAGGTTTTTTGAATTTCGCCTAATTTTGGCATGTGGTGATTCTGTGGGTCTGTGTATTCGATTGTGTGTTTATGTGCGTGTGTGTGCTTGTCAAAAAGGAGGAAGACTGTTGTGTTGCGAGGCCTGTCCTGCCTCGTTCCACCCTGAGTGCTTGAAAATAGAGATGCCGGAGGGGACGTGGCTGTGTGGCGAATGCAAATCGGGCAAGAAGCCCCACTATAAGCAGATAGTCTGGGTCAAGTTGGGCAACTACAGG[T/C]ACGTCTTTTATACTGTTGGAAGTCTCCTCCGATGCATTTAACTAAACTAAAAGCATGTTCATGCCAAGGCTAATGTGTCTGAAGGGCTTTTTCACACTTGAAGTTAACCGTGTCATTTAAACTACATTTTAAAAAACATTCTGTTTTTTTTTTCACACACTGAACTTTAGTATGTTAATGTACTTTCAACTAAAATAGAATAATGAGTAGGGGGAGGGGCTTTTCTTTGCACGTCATGCCCTTAAAGCAAATTAACAGTAGGAGGGAGAGGGTTATTAATATGCAGTTGCTATGGAAGCCCTCGCGTTGTCAACTAAAGGACTCCCACTTCAAACACTGAAGCAAATGATCAGAATTTCATTGGAGTTACCAAAACAAACTATTTCTTTCTGTGGATTAACTTGCAAGGGCTACAAATGAATAATATTATATATATAATATAATAATAATAAAATAAAAACAAAAGCTATTTTTGTTAATATTGCTAATATTGTTAATTT
Associated Phenotype:
Not determined