ZMP
NP_571093.1
Ensembl ID:
Description:
huntingtin [Source:RefSeq peptide;Acc:NP_571093]
Human Orthologue:
HTT
Human Description:
huntingtin [Source:HGNC Symbol;Acc:4851]
Mouse Orthologue:
Htt
Mouse Description:
huntingtin Gene [Source:MGI Symbol;Acc:MGI:96067]
Alleles
There are 11 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa15014 | Essential Splice Site | Available for shipment | Available now |
| sa19545 | Nonsense | Available for shipment | Available now |
| sa19544 | Nonsense | Available for shipment | Available now |
| sa12352 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa15014
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 |
|---|---|---|---|---|---|
| ENSDART00000074777 | Essential Splice Site | 385 | 3121 | 11 | 67 |
Genomic Location (Zv9):
Chromosome 1 (position 41740855)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 40657096 |
| GRCz11 | 1 | 41359883 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGKAGAAAMATGGTGTTGTAACAATATGCMTTGTATGTTATGCTTTTATT[A/T]GGCAAACTGTTGTCAGGTGAAGAAGARGGTTTGGARGAWGATCCTGAGAG
Long Flanking Sequence:
TTTCCTTTATTGGTTTAAATGGCTTTTGTGCTGATCAAGTTCTTTATAACTCACCAATAACAGGCTGTCTTTAAATTCAGCTACTAATATTTCCTTCACTGCTTCTTGGCATTTTATATTCTCCTTGTTAGCCGATTACAAATCGGTGCCTTCAAAATTCCCTGCAAACCAATTTTCTAGATCTCACCAAGCATGTGCTCCTAATCCTGTGCTTCTTTCTTCCTCTAACCCTCAAACTGAATTGCTGGGCTTTTTCTTCTCTTCCTGTTTCCTGCATACAGCCGGCGGGTCAACATGCAGTCCTCTCCTTCTCAGGAAGCAGAAAGGTGACTTCTTGTCTGCCCTTCTTTTGCATCTAACCTACTGACACGTTTCTGGCCATCACACAGTTTGCTAATAAATGTGTGGTTGTAGTTTTAGACTATTAAAAGCTGTTGAGATGTTGTTTATAGTAGAAAAATGGTGTTGTAACAATATGCATTGTATGTTATGCTTTTATT[A/T]GGCAAACTGTTGTCAGGTGAAGAAGAGGGTTTGGAGGATGATCCTGAGAGGGCAGAGGTTACCACAGGATCCTTCACTGGTAAGTTGAGGAGAGCTGTGCTGTTACGCTTCACTCCTGAGAGTTTCCTCTAGAACAGGGCTCGGGAACCTTTTTTCAGCAAAGGAAAAAAAAAAGAAATGCCATTTTAGATTTTTTTTGGCAAATGCATTTTTTTAAAGAGCCATTGGGGTATGTTTATATTTTTATTTATGTATATGTACACTACCAGTCAATAGTTTGAGGCTGTTTTTAAGAAAAGAAAGAAAGTTATTCTGTTCATCAAGGCAGCATTATTTATTAAATAATAATTTATCCAGGGTGTCTGTGGGGTCTTAAAAAGTAATTAAAGTTGATAAATCAATTATGAGCATATTAAGTACCTTAAAAGGTATTAAAAAGTCTTTTTATGAGATGTAAAATTTTGTTTAAGCGTTGTCCAAAGTGTCTGACTCCAAAAAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa19545
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 |
|---|---|---|---|---|---|
| ENSDART00000074777 | Nonsense | 546 | 3121 | 13 | 67 |
Genomic Location (Zv9):
Chromosome 1 (position 41733641)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 40649882 |
| GRCz11 | 1 | 41352669 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTCTGATGTGTAGGTGCTGGATGGCAGTGAGAGTCAGTACTCAGGGATG[C/T]AGATCGGCACACTGCAGGATGAGGAGGAGGAGGGCTCGGCTCCACCACCT
Long Flanking Sequence:
TTAATCATTTGGTAAATTGACACTTTAGGAATTACAATCACTTTAAGAATAATAATAAAATATAGCTAAAGGGTGCCCATTACAACTAGGTAATTAATGACTTAAAATGAAACCAAAAAATATTTTTAAAATAAAAATAAAAATTATAATAGCTTCGAATTTGATCCCCCTTCAGCCAAACTACAAAACAACAACTTACAATTGCATAAATCAGCAGCAATTTTTTGTTAATGCAAGTGACATTAGAGCAACAGCCTACATTTGGTTTTTGTGAGGCCCAAAATTGTCATGACATGCATACAGCTTCTTTTCCAAAGACAGCGTTTTTATGCATTCCTTAAAGTGAAAGCGCATGTTGACTGTGATTTGTTCTTTGTGGCCATGTGCATGAATGAGCTGCTGTGAATGTTTGCGAGTTCGGTTCATTGGGATGGTTTTGAACTGTAAATATGTCTGATGTGTAGGTGCTGGATGGCAGTGAGAGTCAGTACTCAGGGATG[C/T]AGATCGGCACACTGCAGGATGAGGAGGAGGAGGGCTCGGCTCCACCACCTGACAAGCCTCCAGAACCTTTCTCTCAGTCAGCACTGGGTACACACTCATTCCGTTTTTCACACTTATTCATTTATTTAAAAATATTAATATTTTGATAAATATCGATGTTGACAATTTTTCACACTTTCGTTTAGGCCGGTTAATGGCTGTGGTTTTACAGGCATCACAGTCTAATCACTTCACTTTGTTCATTTGATCTATTCTAGAGTATACAGTTACTCATTAAATAGTTGATGCTGAAAATCGAGGTTGTTTTAGTAAATGAAATCTAAAGCTAAGAATAAAAGCTAATTGTGGAATTTATTATAATGCTACATGGCATCGTTTATTAGAAAGTTAGATGGCAGGAACCACTGCTACTTCATAAACGTCACTTTAGAGCTAGTGTTTGAATGATTCTCTAGTTTAATGTCTAAACTGATGACAAAACAGGTGATTTAGTTGACATT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa19544
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000074777 | Nonsense | 2714 | 3121 | 60 | 67 |
Genomic Location (Zv9):
Chromosome 1 (position 41686043)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 40602284 |
| GRCz11 | 1 | 41305071 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACTGAACTGCAGAAGGTGCATCCACCAGAAGATGAGATCCTCAACCAATA[C/A]CTTGTTCCAGCAATCTGTAAAGCAGCAGCAGTGCTTGGCATGGTGAGTGT
Long Flanking Sequence:
TTCTTCCAGGAATACCCACTTCACAGTATAAAAAATGTAAATAATTCCTGCCCAAGGCATGCTCAGGGGTGTGATGCCTGGTTCAAAGCTGTTAGTAGTGTATTGACGACACTTCTGAATGAACTGCCAACTTATCCAGCATATGTTTTACGCAGCAGATGCCCTTCCAGCAGCAACCCATCACTGGGAAACCCGTCTCCAAAACTAGCACTTAATTCTCTGAGCACAAACAGTTGTATATTTAGTATTGCCTCTTGCTGTTGAATCTCTGAATGCCTCCTTAATTGTAAGTCACTTTAAACAAAAGCATCTGCTAAATGACAATGTAAATGTTCTAAACTACACTTCCGTTGCAGTTCACTCACCTCTTCTATCTCTCTCTTTTAGCTGCTGGCAGTGTCTGATCTCTTCACCGAGAGGAATCAGTTTGATATGATGTTCTCCACACTGACTGAACTGCAGAAGGTGCATCCACCAGAAGATGAGATCCTCAACCAATA[C/A]CTTGTTCCAGCAATCTGTAAAGCAGCAGCAGTGCTTGGCATGGTGAGTGTTTACATGCACTTTTGACTCTTTATATGTGACTGATGTTAACAATGTGGACTGATGTACCTGTATCAGGATAAAGCCATTGCAGAGCCTGTTTGCCGTCTGCTGGAGAGCACGTTACGCAGCACTCATCTGCCCAGTCGAATCGGGGCTCTTCATGGAGTTCTGTATGTGCTGGAGTGTGACCTACTGGACGATACAGCGCGACAGCTTATACCGACTGTCAGTGAATACCTGCTGTCTAACCTTAAAGCTTTAGCACAGTGAGTAATGCTTAAAACTGAACGCACACAAACACACCTAACACACATTATTTACTGTCTGTCTAAACTTTAGCTTTCACACATACAGCTTGTTTACATAATGTAACTATTTAATTTCTTAATTTTCTACTGTTAATTAAAGGCATATTTAATCCTAATATGAAAATTCTGTCATTAACTTACACTTTATTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12352
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 |
|---|---|---|---|---|---|
| ENSDART00000074777 | Nonsense | 3081 | 3121 | 67 | 67 |
Genomic Location (Zv9):
Chromosome 1 (position 41676475)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 40592716 |
| GRCz11 | 1 | 41295503 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CGGTGGACATTAGCCTCTTTTGCTTGRTCGCTATGGACTTCTACCGACAT[C/T]AGATCGATGAGGAGTTAGACCGCAGGGCCTTCCAGTCTGTCTTTGAGATG
Long Flanking Sequence:
TGGTGTATGTTTGTGGGTGTCACCGTTCCAAATTAAACCGCAGCTTTTTGCTTATAATGTCTTATTGTTTATTGTCACAGATTAAATAAGGACGCATGACAGCTAAGTGAGAGAGTTTACTTGCACGTGACTTGCTATTTTGGTCCTTTTAGAAACTTTGCAGAGTGAAAGCGAACCATACCATGAACAAAGTGCAACATTGTAACAATTTTATTCTCTGTTTCGGAACAAAACCGTCAATCTACAGGTGTGAAATAGCATTAAACATGCATATGATACCCAAAAAGCCTGCACCAAAAATGTATGAATTAATCTACTGTTACACCCCTACCTTGCACTGGTAACAGCACACTTCATGCTTTTCCATTTCCTCTTCCTCCACGTTTTCCTTAACTTGTTTCTTCCGCTGTAGCCTGCCTCATGTCATCAGCCGCATGGGGAAATCTGACACGGTGGACATTAGCCTCTTTTGCTTGGTCGCTATGGACTTCTACCGACAT[C/T]AGATCGATGAGGAGTTAGACCGCAGGGCCTTCCAGTCTGTCTTTGAGATGGTGGCTTCCCCTGGTAGTCCGTATTACCAACTACTGTGCTGTTTGCAGAGCATTCACCAAGACACGTCTCTATAGAACAGACCAAAAAAAAAAAAAAAGATCAGTAGGATCACCATGGCAAATTAAGCATCAAAATGAAGGTAATATAACACCCAAGCAGAAGACATACACTCACCAGGATGCATGACAGACTTTGGATTGGATTTACAGAGTGGAATCGGTTGCTATGATACTCTCCGAGATTGCTCCAAATAGTTCATAGTTATTAGAGACAGTGGGACCAATCCAAGCAAAACTGCACTTTCACTAGTCTGTGGCCACAACGCACCAATGAACATCATTTATCTGTAATTAAAAATATAAGAAAAGCAGCACTACATTCAGAATATTCAACTGCTATCACAGTATGTGCACCTGGCCACTGAAGCGTTTTTCCTGAGCTGAGTTAAG
Associated Phenotype:
Not determined