ZMP
PXN (3 of 3)
Ensembl ID:
Description:
paxillin [Source:HGNC Symbol;Acc:9718]
Human Orthologue:
PXN
Human Description:
paxillin [Source:HGNC Symbol;Acc:9718]
Mouse Orthologue:
Pxn
Mouse Description:
paxillin Gene [Source:MGI Symbol;Acc:MGI:108295]
Alleles
There are 6 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa11930 | Essential Splice Site | Available for shipment | Available now |
sa17685 | Nonsense | Available for shipment | Available now |
sa17848 | Nonsense | Available for shipment | Available now |
sa11924 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa11930
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000085993 | Essential Splice Site | 47 | 1197 | 1 | 14 |
Genomic Location (Zv9):
Chromosome 8 (position 3681498)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 3430027 |
GRCz11 | 8 | 3488776 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CRGGTGGGACTGAAWACTGGGASRCATTCTGGAATACTCTCTAAACTCTG[T/G]GAGTACTTGTTTTCTGGAAACATTACTGCATTGCGTGTTTGTGGTKAGTT
Long Flanking Sequence:
TTCCTCGAATCAAATATCTTGTTTGTCGCGAGGGGCATGAATGAATTCCCTGAATGAAAGAGCCAAACTGCAGTTAAAGTCCACCATTTAATAATTTGGCAAATAATTCGACTACAGATGTCCATGTAGGTTAAACACCATCACTTTCTCCTGTGTGTGTATTTTGACTGAAACTCGCGCGTGCCCAAATAGACACTCCCACACCCTCCCACTTTAGTTCCTCCGACACTCCCCCCTAAACAGAGCTGGACACGCCCACTTTATTTTGACTTTTTCCAAAGTAGAGGTGTGAAAACACCCTGCTGAAACGAGGGGGTTTCATAGCCCTTTAAAAAATTTTGTCTGTGTAGAAAAGGGTTAATGACTTACGTCTACTGTGTGTTCCTCCCCTTCACACTCTCTCTTTTTCTTTCACACACACTCATACACACACACGTATACACTCACACTCAGGTGGGACTGAATACTGGGACACATTCTGGAATACTCTCTAAACTCTG[T/G]GAGTACTTGTTTTCTGGAAACATTACTGCATTGCGTGTTTGTGGTTAGTTTTGACCCCTGGGTAACTTCTGGAGCGGAATAGCAGCAGACGCGACTTCCTTTCACTGTTAAAAATAGAGCAAACTCAAGAAAGACGCTCTTCTGTTTAAAGAACTAAAACCGAGCTGAGCTTTACAGTTTGGGCTATTTTAATGATGAGTTGTTTCTAATTGCTGGATGATGTGTTTTTTTTTTTTTTTTATATAATAATGCCTTAAATGTTTAGATTGATTCAATTTCAGATGAATTTACTTGTATGTCTTTTGGACTAACTTGCTCTTTTAAATAAAGTTAATCAATCGTAAGCACAAAGCATTTATTATATTAGAGGTCATTTATTACCTTTAATTTTTCTGAACTAAGTACAGGGTTCTTACGGGTGCTGGAAATCCTGGAAAATGCTTGATTTTTAATAGTGTTTTCAAGGTTAGAAAAGTGCTTGGATTTTGAACAAAGTGCTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17685
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 |
---|---|---|---|---|---|
ENSDART00000085993 | Nonsense | 379 | 1197 | 7 | 14 |
Genomic Location (Zv9):
Chromosome 8 (position 3698665)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 3445636 |
GRCz11 | 8 | 3504385 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AACCAGGGGCTGTGCCTCTACCTTCCAATGGTGTATTTAAGTCTTACTCT[C/T]GACTGTCTCCCCCTCCAGCATCTAGTCCAYGTTTCTCTCCAGCGCCTGAC
Long Flanking Sequence:
AACTTGCGTGTTTTCATCTGACATTCACAAAATTAACCAGTTTTATTCTTGTAAACTTTTTTGGCTGCTTGTCTATCTCTTTATTTTCATCTCATGATTTCACCATTGTGCCAAGTATCAGTTTCATTTTTCTTTGTTTTTTCCCTTTGCTGTTTTGTATATGCTATTGAAGCTTTTTAATTATTTCTCATTCTCTGCATCCCTTAATCTGTCGATCTCTTCTGTTTCTCTTCTTTCTTCCCCTGTCCCTTCCTTATGTCCTCCAGCCAAGTTCTTTAGGCTCCCTGAACTCTGAGCCACTGTTTGAGCAAACTACTACCATTGCTGAAATCCACCCTCCTCCTACGACTACCGTGTCCAAATCCCTGTCCCCTACCTTACCAGCAGAATCTAGGCAATTTTCTCCAGGTCCTTCAAGCTTTGAACTGCACATTGTGGAGGATTCTGGTGAACCAGGGGCTGTGCCTCTACCTTCCAATGGTGTATTTAAGTCTTACTCT[C/T]GACTGTCTCCCCCTCCAGCATCTAGTCCACGTTTCTCTCCAGCGCCTGACTTGGGCTTGGATTCTGCCATTGATGTTTCTGCTTCCCTGCTCTCCTCGGAGGTGGAATCTCTAGTTGTTCTATCTCAGACTATACCCATGACTTCTGCACCTAGAGGTCAGTACCTTTCTCCTGTCAGAGAGGGGAGTCCATCTGCCAAATTGATGAACTCTGGACTGAACTCCTATTCGCCTAACACCAAGTCTCCTAGTCCAAGAAGTTCACCAGCGATTAGCAGAGTCAATGAACGAGTTAGTCCTTTGATGACACCGGCATCTATAGATCTCTATCTCTCCAGACCTGAAACAAAACCTTTGAGCCCAGTGCCATCCCTTCCCAGGTCTCCACTTCCTGCAGTCTCTGAATCATCTTTTCTGTCTCTTCCCAGAGCTCTCTCACCTCCTCCTATCATACCCACTTCCCCAACTCTTGGGGTTTCTAAGTCTCCAAGCCCAAAACAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17848
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000085993 | Nonsense | 1012 | 1197 | 11 | 14 |
Genomic Location (Zv9):
Chromosome 8 (position 3708142)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 3454720 |
GRCz11 | 8 | 3513469 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGGAGATTGGTTCCAGGAACTTCTTTGMGAGAGAAGGACAGCCATATTGC[G/T]AGAGGGATTATCACCATTWAWTCTCTCCAAGATGCTACTACTGTAACGGA
Long Flanking Sequence:
CCCAGTCATTTTCTTCAATAGTTTGACCAATATCCTTCTCCCAAACATCTTTAAGTTCTAGCCAGGCAGAAGTGCAGTTGTTAGACAAAGTGTCATAAATCCTTGTTATCAATCCTTTTAAACAAGGTGAATTCAGTAAAAGGTATTCAATCTCTGTTGTTTTGGATCTCAGCTCTCCTTTGTCCAACTTTGGTTTTAAAAAATGTCGCAATTGTATTTATAAAAATTGGATTTTGGAACGTTATATTAATCTACAATCTGTTGGAAAGATTTTATGGTGCCTTCTGAAAGTAAGCAAGATATTTGAGAGATGCCCACCATGCTGAAAAAACAGTGTTTTGCAATGTTAAAGGCATATCGGGATTAAAAGTGTGTTTGTTTCTGTACAGGTGGTAACTGCAATGGGGCGCACATGGCATCCTGAGCATTTCGTGTGCACACATTGTCAAGAGGAGATTGGTTCCAGGAACTTCTTTGAGAGAGAAGGACAGCCATATTGC[G/T]AGAGGGATTATCACCATTTATTCTCTCCAAGATGCTACTACTGTAACGGACCCATCCTGGACGTGAGAAGAAACTTCATTAATTTGATACATTTTCATTTGACTAGCATCAAAACCTGATGCCAATCCAGACTATGTGTGGAAAAATCCAGTTTCAGTTTTAGTTTCCTTTATTTATGTCATTCAACACATCACAATAGAATTGTAATGCAGAACGAAATTACGTTGCAACAGACCCAACAAGAACATTAAAAACATCACTCTACAAACAATATAAAATCCTAACATAATAAATAAGCTTTTATATTTCCATAAAAATATAATTATATAAGATATAACCTATTTTAAAAAATCTCTGAAGAGAATTACTTAATAATTAAATACCTATTTCACCATTTGCTGTAATATTAACAATTTATGCTAGTTTAACATATTTATTAACTTATTATTTAACACTAGCTTTCAACAATGCTTAAGAAATGGTATTATTCAAAAGTCTTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa11924
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 |
---|---|---|---|---|---|
ENSDART00000085993 | Nonsense | 1018 | 1197 | 11 | 14 |
Genomic Location (Zv9):
Chromosome 8 (position 3708161)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 3454739 |
GRCz11 | 8 | 3513488 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTTCTTTGMGAGAGAAGGACAGCCATATTGCGAGAGGGATTATCACCATT[T/A]AWTCTCTCCAAGATGCTACTACTGTAACGGACCCATCCTGGAYGTGAGAA
Long Flanking Sequence:
AGTTTGACCAATATCCTTCTCCCAAACATCTTTAAGTTCTAGCCAGGCAGAAGTGCAGTTGTTAGACAAAGTGTCATAAATCCTTGTTATCAATCCTTTTAAACAAGGTGAATTCAGTAAAAGGTATTCAATCTCTGTTGTTTTGGATCTCAGCTCTCCTTTGTCCAACTTTGGTTTTAAAAAATGTCGCAATTGTATTTATAAAAATTGGATTTTGGAACGTTATATTAATCTACAATCTGTTGGAAAGATTTTATGGTGCCTTCTGAAAGTAAGCAAGATATTTGAGAGATGCCCACCATGCTGAAAAAACAGTGTTTTGCAATGTTAAAGGCATATCGGGATTAAAAGTGTGTTTGTTTCTGTACAGGTGGTAACTGCAATGGGGCGCACATGGCATCCTGAGCATTTCGTGTGCACACATTGTCAAGAGGAGATTGGTTCCAGGAACTTCTTTGAGAGAGAAGGACAGCCATATTGCGAGAGGGATTATCACCATT[T/A]ATTCTCTCCAAGATGCTACTACTGTAACGGACCCATCCTGGACGTGAGAAGAAACTTCATTAATTTGATACATTTTCATTTGACTAGCATCAAAACCTGATGCCAATCCAGACTATGTGTGGAAAAATCCAGTTTCAGTTTTAGTTTCCTTTATTTATGTCATTCAACACATCACAATAGAATTGTAATGCAGAACGAAATTACGTTGCAACAGACCCAACAAGAACATTAAAAACATCACTCTACAAACAATATAAAATCCTAACATAATAAATAAGCTTTTATATTTCCATAAAAATATAATTATATAAGATATAACCTATTTTAAAAAATCTCTGAAGAGAATTACTTAATAATTAAATACCTATTTCACCATTTGCTGTAATATTAACAATTTATGCTAGTTTAACATATTTATTAACTTATTATTTAACACTAGCTTTCAACAATGCTTAAGAAATGGTATTATTCAAAAGTCTTATAATGACAGGATAAAACTA
Associated Phenotype:
Not determined