ZMP
SHANK1 (1 of 3)
Ensembl ID:
Description:
SH3 and multiple ankyrin repeat domains 1 [Source:HGNC Symbol;Acc:15474]
Human Orthologue:
SHANK1
Human Description:
SH3 and multiple ankyrin repeat domains 1 [Source:HGNC Symbol;Acc:15474]
Mouse Orthologue:
Shank1
Mouse Description:
SH3/ankyrin domain gene 1 Gene [Source:MGI Symbol;Acc:MGI:3613677]
Alleles
There are 12 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa20034 | Nonsense | Available for shipment | Available now |
sa20033 | Nonsense | Available for shipment | Available now |
sa12603 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa20034
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 |
---|---|---|---|---|---|
ENSDART00000085327 | Nonsense | 36 | 1695 | 1 | 33 |
Genomic Location (Zv9):
Chromosome 3 (position 30921246)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 3 | 30639285 |
GRCz11 | 3 | 30770127 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTGCAGTCTGACTGAGTCTCTGAGGGATGTTTTAAACTATGGTCTTTTT[C/T]AACCTGCCACTGACGGGCACGATGCCAAGTTCCTGGAGGAGGAGAGGCCG
Long Flanking Sequence:
TGCAACTATAAAATTACCCAAACAAATTAATACAATTACTATAAAAAAAGTATTTACATAATTTACTATAGTATTTTTCATGGTGGAATAGTGTAAAATACTATTTGCCCTAGGAAATGTTAAATTAATAAAAATAAGAACTTAAAATACATTTTTTACTGAATGTTGTCTGCAAGTTCTCCATTGTAAAAGTGGGTTTTTACTGTGTGTGTCTCATTAATATTCCCACCACTAGCCTTGTACTTTTCTGCCTATATTTTTCACTAATATAATATAATATAATATAATATAATATAATATAATATAATATAATATAATATAATATTGTATGATATAAACTCAGCAGCTAAATCTGTTTGTCTGACAGACATTGTTTTTTCTTTCTGTCTCCATAGAAATGTCTGAGGTTCAACCCTGATGCAACCGTATGGAAGGCGAAGCAGCAGGTGATGTGCAGTCTGACTGAGTCTCTGAGGGATGTTTTAAACTATGGTCTTTTT[C/T]AACCTGCCACTGACGGGCACGATGCCAAGTTCCTGGAGGAGGAGAGGCCGCTCCGCGAGTACCCACAATCCTTTGAGAAAGGAGTACCTTACCTGGAGGTAGCTTTCCTTTTGTTTCCGTTTTGTGTTTTACTTTTTTTTTAATGTTTTTTTTACTCTTGCTCTATAATTGAATGTGAACATTGGTGCTAGGAAACTGCTGCTTCAAATTGTTTGTTGCCTTGGTGATAATTCTTTTAGCAGCTTCTCTGGTAACTATGAATCTTAATAACCCTTACATGGAAATTTGTCATGTAATAAGAACTATTACAATTATTATTATTTATTATATTTTGAGCAAGTACTATTATACAACAATAGTCAGCTTAGAGTCCAATTCCTAGAAGCCTGTTTTATCTAATGTTGATCATAATAATACTGATAGTGACACCTCTTTGTTAAAGGAACTCAAATGCTACTGTTTTCCCATTTATGAAGAGTTACAGCTCACGATTAACAGCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa20033
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 |
---|---|---|---|---|---|
ENSDART00000085327 | Nonsense | 846 | 1695 | 21 | 33 |
Genomic Location (Zv9):
Chromosome 3 (position 30856123)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 3 | 30574162 |
GRCz11 | 3 | 30705004 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTCTATGTCTCAGTCTACTTCCTCTGCTGCACATTATCAACTCTACTCA[C/T]AGTCAGTACATGTTACTCACGGACCAAGGGACAGGTCCCCTGGACCACCT
Long Flanking Sequence:
TCAGTCATGGTAATAAACAGACAAGCTGACAGACAGACAGACAGACTACAAGATGGTCTCTTTTCTGTATCCTGTTTTGTTTGTCCTTTGCTCAGTATTAGAAAATAAATATATCTTTTCCTTTTTTGGTTATTTTCTCACTTCCAAATGTTGTACATTTATCTTGTCTCCCAAAAATATTTTTCTTTCGTCTTTGTTGTTTAGAAACATTTTATTTTAATTCTCCCTTTATACATTTTCTTGAAAATGTATTTCATCTTTTTTTTTCTGCAGGGGTTCCTGAGGAGGAGAAGCAGTTTCTTCATCCTCCAGCCATGAAGTTTGCCCGTAGTCTTTCAGTACCTGGCCCAGATGAAATCCCTCCTCCACCTACTACAGCACCCCCTGAGCCCCCTTTTTCCTCAGCTCCTCCGCTTGGCTTTAGGGGCAAGACATCTCAACAGCCGTCTGTTTCTATGTCTCAGTCTACTTCCTCTGCTGCACATTATCAACTCTACTCA[C/T]AGTCAGTACATGTTACTCACGGACCAAGGGACAGGTCCCCTGGACCACCTACTGGGTCTGGAACTGGGGACCTTGCTTATTCCCATGCCCAAGCCCACCCCTCTGTACCAAGTAGGACTGCCTCCAGGAAGGTGATTGGGTACACAGGAGATCTTGCAGGGGCTGGAGGAGTGGCTGGGGCCAAAGCTGCAGCATTGAGAAGGGGTTACAGCAATGCAGTCCCACCCACCAGTGTCGCTACTGTGATTCCACAACAGCAGCAGACTACTCAGAACCAACCTTCCAGAATGGACCGGAGTGGAATGGGGGTAGGGGCTGGTGGTGTACCAAAAGGCGGTGCTCGTAGAGGAAAGGGGCCCTTGGTGAAACAGTCAAAGGTGGAAGACCTGCGTCAAGGTCAAGACACTCTAGAAGCAAAGGTGTCAGTGGAGAAGAGCTCTATTCCAATCCCAACTATCATTGTTAAAGCCCCTTCCACCAGCAGTAGTGGACGCAGTAGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12603
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 |
---|---|---|---|---|---|
ENSDART00000085327 | Nonsense | 1640 | 1695 | 33 | 33 |
Genomic Location (Zv9):
Chromosome 3 (position 30851563)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 3 | 30569602 |
GRCz11 | 3 | 30700444 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTTTGCCTCAAAACCTCTCCCATACTGGACCAAGTATGATGTTGCAGATT[G/A]GCTGGGCTACCTGAACCTGGGTGAACAMAGGGAGCGATTCTTAGACAATG
Long Flanking Sequence:
CAAACACCGGCCTGTTTATCGCACCAAAGCTCTGGAGTTCCAATTTATTCCCAGTCGAGAGTCACGAAAGTCAGAGTCGCATCATGCCCAGCGCAGACGAGCACCCAGCCCTTTAATTTCTCCATCTGACCGTCCCAAGCTTGGCCCTCCCCGCCCCTCTTCCCTTCCTATTCTCCCCACTACACCCCTCTATAGCAGCCTGTATGACCTTCGTGGTTCTATTACTCCACCCTCACCTGCCAATCCCCTTGGGGACCCCTACTTTTCCCCCTCCCCCCCTCTATTTGCCCCCTCGGGTGCTCCCCCTCCTCCAAATTCCTCTCTGGTGGTCTCACGGTCCCTGTCACCCACTCACTTCCTGTCAGGGACTTCATCCCCACCTCTCCACCCCATTCCTCCACCCACTTGCCTGAGTTACCCCCATCTTCCACCCCCCTCACCCACAAAGCCCTTTGCCTCAAAACCTCTCCCATACTGGACCAAGTATGATGTTGCAGATT[G/A]GCTGGGCTACCTGAACCTGGGTGAACACAGGGAGCGATTCTTAGACAATGAAATTGATGGCACGCACCTGCCCTCTCTTACCAAGGATGACTACCTGGACCTGGGTGTGACCCGAGTTGGCCATCGCATGAACATAGAGAGGGCGCTCAGGAGAGTTATGGACAGGTGAGAGGAGAGAAAAGGGGGAAGCAGAGAGATGCAAGGGATGTCTGCAATGGAGAGGGATTAGGGTGAGGGGTAGTGCATGAGCAAAAAAGCTATTATACTTAAGGTAACTCTTGATATGCTATTGATTGCTAACTTCAGAGAACACTTGGAGTGGGCCACTGCATGAGGTCCAGGATGGCATGGGGAAAGAAATGGAGAACTGAAAGAGGGGGATGTGGGAGAGCAAGAGAAAAATACTTCCTTATAAAGACTTTCCACCTTCCCCCCCCTATCATCAGGCTGTCTTCTAGCACTTTCCCCATTTCTGCTCTCTCTCCTCGAAATGGACGGAC
Associated Phenotype:
Not determined