ZMP
LOC566782
Ensembl ID:
Human Orthologue:
NLRP6
Human Description:
NLR family, pyrin domain containing 6 [Source:HGNC Symbol;Acc:22944]
Mouse Orthologue:
Nlrp6
Mouse Description:
NLR family, pyrin domain containing 6 Gene [Source:MGI Symbol;Acc:MGI:2141990]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa20606 | Nonsense | Available for shipment | Available now |
sa13442 | Essential Splice Site | Available for shipment | Available now |
sa40618 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa20606
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 |
---|---|---|---|---|---|
ENSDART00000124082 | Nonsense | 548 | 832 | 1 | 5 |
Genomic Location (Zv9):
Chromosome 6 (position 1333400)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 722157 |
GRCz11 | 6 | 1221806 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAAAGACGATTCGTTATATAAGCAAACGAAAGAATACTTAAGGACAAATT[T/A]AGGAAAACCCCTGTCATCCTCCATGTGTTCACTGCTGGCGTACGTACTGC
Long Flanking Sequence:
AGAGGCTGGACTTCATGAGCTAAAGACCTTCAGCTTTGTGCATCTGAGTGTTCAAGAGTTTCTCGCTGCAGTGCATGTGTTCCTCTGCTACCTGGACAAGAACATGGAGGAGCTTCAGTTCTTCCTTGAAGAGAAACAAACCCGAGTTTGGTACAAACGTCTGCTTTTCTCTCAGTCAGCGCTACACGCAGATATTCCATTGCATGATTTACTGACACACGCAGTTAACAAAGCAGTGCAGAGTGAGAAAGGACATTTCAACCTGTTCTTGAGATTTCTGCTGGGCATTTCACTGGAATCCAATCAGAAACTTCTCAAAGGCCTGTTCACACACAATAAAGACAGCAGAGACAGCATCACAACAACTACTAAACACATTACAGAAATATTACACAGCCAGGACGTCTCAGCAGAAACTTCAGTCAACCTGTTTTACTGCTTACTGGAGCTCAAAGACGATTCGTTATATAAGCAAACGAAAGAATACTTAAGGACAAATT[T/A]AGGAAAACCCCTGTCATCCTCCATGTGTTCACTGCTGGCGTACGTACTGCTGATGTCAGAGGAGGTGCTGGATGAGCTCAACCTGAGGATGTACACACGTTCATTGGGAGGCTGCTTGAGTCTCCTACCAGTTGTGAGATGCTGCAGAAAAGCCATGTAAGTAACACAATGACAGTTTCATTTTTTGCCTATAAGTTTGAATATTTAATGTAATTTCTCAAATAACGCTGTTCACATAAAATAAGCACCCAAATTTATCTTGATCAAATGTCCTGTTTTACAGACTCTCCATGTGCAGTCTTAATGATTCCTGCTGTGAAACTGTGGCTTTAGCCCTGCAGAACCTAAACTCACCATTGACAGAGCTGGATATGAGTTCCAATATCATCCAGGATTCGGGAGTGAAGCTGCTCTGTGAGGGAATGAACAGCCCACACTGTCAGCTGAAGAAACTGAGGTTTGAGATTTAATGTATCTATCCAATTAAAATGTATATTGAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa13442
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000124082 | Essential Splice Site | 658 | 832 | 3 | 5 |
Genomic Location (Zv9):
Chromosome 6 (position 1335704)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 719853 |
GRCz11 | 6 | 1219502 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTTGAAAATAAAATTGATTTAAAAATCTGTACATTTCATTACTTTTATTT[A/T]GAATGGGATCYTGTAATCTCACCGGTCAGTGCKGTGAGAGTTTATCATCA
Long Flanking Sequence:
TTATGAATCACTTTTACTGTTATCAACCTCAGATGAAGATGTTAATAATTTAAAAACCTAATTATTGGATGTATTTTGTCCTTTTTTATGCTGTTTAGTTTGGACTTCTGTATGCTCACTGATCAGTGCTGTGAGAGTTTATCATCAGCTCTACAATCATCAAACTCTCGCCTGATAGAGCTGGACATGAGTGATAATAACCTGCAGGATTCAGGAGTGGAGCTGCTCTGTGAGGGACTGAAGAGCTCAACATGTCAGCTGGAGAAACTGAGGTTTGAGATTGAATGCATCTATCCAATTATAAATGTTTATTGATGGCAATTATCCATGAACTTTTAAATGAACAAAAATGATTGAGTAGATTGTCTAAATTGGGAAGCATCCTCTAATATTTCTGTGTCACCTACAAATATGATAACCCTCATATGACAAAAAAAAGTGAAAACATGATTTGAAAATAAAATTGATTTAAAAATCTGTACATTTCATTACTTTTATTT[A/T]GAATGGGATCCTGTAATCTCACCGGTCAGTGCTGTGAGAGTTTATCATCAGCTCTACAATCATCAAACTCTCGCCTGATAGAGCTGGACGTGAGTAATAATGACCTGCAGGATTCAGGAGTGAAGCTGCTCTGTGATGGACTGAAGAGCTGTCAGCTGGAGAAACTGAGGTTTGAGATTCATATAATTCAAATATAATTTAAGTAAATGTGTGTATTTAAAGCATCACATCTTTTTTCATTATTTTTTATTTTATTAATTTACAACTGTAGCTTAAATCTGACTAGACACAGATGTAGTTCAAATGCAGTAGGTAAAACATGTAAGTCTAACAATGAAGCAAGGCTCCAGTGTTAGAAGATGCACAAAATCTACTACAAAATGTTTAAAAGTGCACAAAGCAGGTGAAGGTCCTGGCCTCAAAGCGATGACAGTTTAGAGAAAGTATATGTGACATTAAAAATATCGAACTCTCCAAACCTTGTGCTCCTTTATATTTGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa40618
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:
G > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000124082 | Nonsense | 811 | 832 | 5 | 5 |
Genomic Location (Zv9):
Chromosome 6 (position 1338702)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 716855 |
GRCz11 | 6 | 1216504 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACTCCCATTTGTTAGAGCTGGATCTGAGTTTCAATGACCTGCAGGATTCA[G/T]GAGTGATTCTGCTCTGTGATGGACTGAAGAGCCCAAACTGCCAGCTGGAG
Long Flanking Sequence:
CAAACGCAACTAATGAGATTTGATACATTGTCCTGTATTTCTTTATAATAGCTGTTAATTTTAATTGTTAAAACTGTTTGCTAGTTTCTTTGCAGCTTTTTCTAATGTATACTATTTATTATATCCTTTGTAAATAATTCATTCGTTCATTCATTTTCTTTTAGGCTTAGTCTCTTTATTAATTTGAGGTATCCACAACGGAATGAACCGCCAACTTATCCAGCGTATGTTTTATGTTTTACGCAGCGGATGCCCTTCCAGCTGCAACCCATCACTGGGAAACATCCATACAAACTCATTCACACAACTTTACTAGGGACAATTTAGCTTACCCAATGGATGTAAATGGATGTAAAATTACCGTCTTTTTCCATTTGCTGTTTAGATTGTTCTCCATTAATCTCACTGACCAGTGTCACGAATCTTTGACATCAGTTCTACAATCATCAAACTCCCATTTGTTAGAGCTGGATCTGAGTTTCAATGACCTGCAGGATTCA[G/T]GAGTGATTCTGCTCTGTGATGGACTGAAGAGCCCAAACTGCCAGCTGGAGAAACTGAGGTTTGAAATTTATTAATTTGGTTTAATTTAGTTGCTAATAAGTACAATATAACATGTGTTATTATTTATTTATCACATTGATAAAATATTAAAGGGGAAATGAAGCACTCGGTCAAGTTGTCATTATTTTGTACATTGGATTACACTTTAATGAAAATATATTAAACAAACTCGATTAATGTAACTATTTAGAAGAAAACAGCGTGCTTTACTATAGATTTTAGACGTAGGGCGCTGCCATCTTGGAATAGTGCTAAGTCTGATGTCACGGGGTTGGTTCTGTTCCCTCAGCTGAACAGATGCAGTGGAAGTAAAGGACTGAACACACAGACTGAACAGCCTAATTTAACCCAATGTGTGAAATTGTGGACGTTGAGCTGCTGCAAATACAAGCATGAGATGTGTGTCTAATATAAAAATATATATTTATTCTGTTTTTCCC
Associated Phenotype:
Not determined