ZMP
shank2
Ensembl ID:
ZFIN ID:
Description:
hypothetical protein LOC567595 [Source:RefSeq peptide;Acc:NP_001121819]
Human Orthologue:
SHANK2
Human Description:
SH3 and multiple ankyrin repeat domains 2 [Source:HGNC Symbol;Acc:14295]
Mouse Orthologue:
Shank2
Mouse Description:
SH3/ankyrin domain gene 2 Gene [Source:MGI Symbol;Acc:MGI:2671987]
Alleles
There are 6 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa14519 | Nonsense | Available for shipment | Available now |
sa38026 | Nonsense | Available for shipment | Available now |
sa38027 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa31108 | Essential Splice Site, Missense | Mutation detected in F1 DNA | Not yet available |
sa44255 | Essential Splice Site, Missense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa14519
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000089981 | Nonsense | 194 | 1710 | 6 | 30 |
ENSDART00000145387 | Nonsense | 227 | 1800 | 5 | 21 |
Genomic Location (Zv9):
Chromosome 25 (position 14447017)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 25 | 14089940 |
GRCz11 | 25 | 14186340 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCGGGKCTCATTTGGACTTTCGCTCCCGGGATGGCATGACTGCCCTGCAC[A/T]AAGCAGCCAGAGCCAAAAACCAGATCGCTCTCAAGGTAATAAATAACCTC
Long Flanking Sequence:
TGTTTTATTCTATTTTATTTTATTTTTTTATATTTCTATATTTTTGTCGTTTTTTTATATTATTTTGTTAAATCAATTTTTATATATAGTTTCTTTAAGAAATTTAATGTCAGTAAGATTAATTTTATTTTAATTTATACTTTACTTATTTTATTTTATTATTTTTTTATAAGCAATTTCATAATTTGCTCAACAAAACATTGCAATCACATAAATAAGTAAGATATTTATATGTATTCAAATAATAAAGTGCCCATTATAATCCAGTATTATACATCATTAATCACCATTGATGAAGCATATGAATCCTTTAATTAACATCATGCTTTTATTAAAAGAGATTTCCCCAGCGTGTAGTAATGAGTTTGTGTCTGTTGTCCACAGAGACCCCGCTGACCCTTGCTGCTCACTTGGACAATATGCTGGAGATTATAGTGACTCTAAAGAACGGCGGGGCTCATTTGGACTTTCGCTCCCGGGATGGCATGACTGCCCTGCAC[A/T]AAGCAGCCAGAGCCAAAAACCAGATCGCTCTCAAGGTAATAAATAACCTCATCCCGAACGCCAGCTTCACTTTATGGCTGTGTTAGAGCAATCTTCTTCAGTGATTGTCATTTTGTTTTTTTATTTTTGGTGCCATAGATGTGAAACAGAGCAGTACAGCGATGTCTTTTAGTGTCAGAGAGAACATTTATTACTTTGACAGAGCGTACTTTCATTCAAAGCACACTCTGTCTTGTTTTTCTCTCTCTCTTTCTATTAAGGCGAGACACTGCAGACAAAAACACTGATGTTCAAATCTTCAAGTGTTTTGGAACTTTTCAAGTGTTTTTTTTTTCTAATTTGAACAAAACATCCAAAATACGCATTTCTTTTTGTCACACTTAATTAATTAGAGTTTGTAAATCTCAATTACAATACATTTTTTGCAGAGTATTTTCCTAAAACATTTTATTTTCTGCACTGAGCCACAAATGTCAACTATATTCAACATTTCATTCTAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa38026
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 |
---|---|---|---|---|---|
ENSDART00000089981 | Nonsense | 566 | 1710 | 18 | 30 |
ENSDART00000145387 | Nonsense | 603 | 1800 | 13 | 21 |
Genomic Location (Zv9):
Chromosome 25 (position 14557375)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 25 | 14200298 |
GRCz11 | 25 | 14296698 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGTCTTCACAGATGCCAGAGCGGACCGTTCAGAGAGAAGGAAGCTCTTT[C/T]GACACTACACTGTGGGATCTTATGACAGTTTTGATGCATCAAGGTACGAT
Long Flanking Sequence:
CTTTATTTTCCAGAGCACAGTCAGTATCGTGTTGGCTAAATGATTAAATATGTTTAAAAAATGGCACCTGGGACTGTATGACATATGGCACACAGTAAGACCATTTTGTGACTAGACAGAGTTTTTTATGTAATTATGTAACCAAAGCTTTATAACATTCTCACTTTATCACATCTGCTGTACCTCTCTAAAATTCCAGTGCTTATTTTTATTCCATTTGCGCATTTTATATTCAGCGTGAAAGTGATGATAATGATGCTGAAGCTGTCAAAGTTTGTGAGTTTGTACTTTAACACACCAGAGTTGCGGTTGAAACTTTGGCTTATGTGTGTGAATAATCAGTAAAAAAAGAATATTATAGCACTTTGTAATAAGCACATATTATGTAGGCCTTGCAACACTGCAATTTTACACAATCAGGGTGATGATCTGAATTAAATATCTGTAAACATGTCTTCACAGATGCCAGAGCGGACCGTTCAGAGAGAAGGAAGCTCTTT[C/T]GACACTACACTGTGGGATCTTATGACAGTTTTGATGCATCAAGGTACGATCAAACTTTTTTCTAATTTTAGTATGTGGTGTTTGTAATATAGGCTCATTCTGAAAACGTAGCCCTATATACATTCCTGGAGATCACAAATTATGTAGCCAGAGCTACGTATGGCTGCATTTTGTCTTTAAAACAAACACTACCGGGTGGTATGACGCCGAACCGTTTCACGCTAGCAGCTGACCGCTTACTTGCGTATGGGTGGCTTTCCTGCTGTTACCAGTTTGTCTGTTAGCTCGACATGTGCGTCGTCGGACTTGAGACACAGAGCGTGAGTTGACCGTGATGATGGGGTTTGGTTTATTGGTCGGTTGGTCAGTCAGTCGACAGTGGCCTCCGGTGGATTTATATGAGAAAAGCATGCATAAATGCATGCACTTGCGAGAGAAATTTGAGATCTCAAAAAGCAAACATAGCGGCCTCTGGTAGAATCGCGAAAAACAAAAACTGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa38027
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:
T > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000089981 | Essential Splice Site | 773 | 1710 | 25 | 30 |
ENSDART00000145387 | Essential Splice Site | 800 | 1800 | 18 | 21 |
Genomic Location (Zv9):
Chromosome 25 (position 14621416)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 25 | 14264339 |
GRCz11 | 25 | 14360739 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAAGCCACGTCCAACTAGCAAATGTTTTCCTGTCAGCCCTGAAATGAATG[T/G]AAGCGTGCCTTGTGTAATATCCCCTAGAGCTTCGGTCTCCTGTGATTGTT
Long Flanking Sequence:
CTGAATTTCCCTTTCCTCCATTTCTGTGTAGATGATCAGCTTTCAGATAATGAGGGTCTGAAGAAGAGGATTGTATTTCAAGTCACACTAAGTAATCATCCCATGCATGGGAGCTGTCTTAAAAAATAAATAAAAAGCTAGCATGTTGCACAGTGGCCGTTGAAAGAAGTGCTAAGATTTCTCCAACGCAGCCAGGAAGCGCTTGCACGGCTTTGACCTTGACCATTGTTGTTGTACCTATTTCTGTCGCCTCTCTTGCTCGGTTTGGATCCTTGCACTGGGGATCCTCTTAGAGGAAATTAGCAATATTTGATACTGAGCTTATTTTAAATGTTGCTTCCTGCTTTCTAATTTGAGATGCTGTTGTCTTACAGATAAAGTGGATGAAGTCGTACCTCCTCAGAAACCCATATGGGACAACTCAAATGCAGAAGTGAGAGTGGCGACGGTCAAGCCACGTCCAACTAGCAAATGTTTTCCTGTCAGCCCTGAAATGAATG[T/G]AAGCGTGCCTTGTGTAATATCCCCTAGAGCTTCGGTCTCCTGTGATTGTTGATAATTGTATTGTAGGCTAACTGCAATAACCGCTATTCACAAGTCTCATATAACCACTGGCTATGCACGTGATGTTGGATTTTGATGCTTAAATTAGAGTGGAATTATGCACAGGGTTGTGAGTATGTTATAGATTATTTCTATATATTTGTCTCAATCCCTTTTTATAAATTTGTTTCAAAATGTGAGAAGCCTAGTTTGAATAGGTGCTCTACAAAAAGTGCTGCATTATGCTTGTCCTTATTATCATGTCAGCCTTGTTCTTTCTTTTGCAGTCTCTCTGCAATAGTCAGGATACAGCAGTAGATTCGTCACCACAGCCAGGGAGTCCTAGAGGCCCTTTTCTGGGTCTACCAAGGGGAACCATACGGCGGCAAACATCCATAGGTGTGTGGATTGTTTTGTTTTGCACACTCAAGTACATCTTTATTTTGATATATTGCACACAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa31108
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:
A > T
Consequence:
Essential Splice Site, Missense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000089981 | Essential Splice Site | 1260 | 1710 | 28 | 30 |
ENSDART00000145387 | Missense | 1324 | 1800 | 20 | 21 |
ENSDART00000089981 | Essential Splice Site | 1260 | 1710 | 28 | 30 |
ENSDART00000145387 | Missense | 1324 | 1800 | 20 | 21 |
ENSDART00000089981 | Essential Splice Site | 1260 | 1710 | 28 | 30 |
ENSDART00000145387 | Missense | 1324 | 1800 | 20 | 21 |
Genomic Location (Zv9):
Chromosome 25 (position 14623589)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 25 | 14266512 |
GRCz11 | 25 | 14362912 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGAAAGGGACGAGGGAGTGAGTCCCGACAACACCCCTGGGGAGCTTCGCG[A/T]CCCCAACCAGCCAGCTCCCACCAACCCCCCAGCCCCCAAGGCGCTATCAG
Long Flanking Sequence:
GACCTACAGCTCAGGAAGTGGGAATTACGTTCACCCAGTAACAGGCAAGCCACTTGACCCCAACTCACCATTAGCTTTAGCATTAGCTGCCAGAGACCGAGCCATGAGGGATCAATCACAGCCTCTTCCATTAAAAAGTGACCCATCCAAACTTGATCTCAATAAACCGCTTTTCATCGACACCAAGCTTAGACCAAATGTGGAGGTTGGCTTCTCAAGTACTGCTACCATGGGCCGTCCCCGTGGGGGCTTGAGGAGGCAGATGACTGAGTCCAAATATGAGACAGAATCCAAGTATCAGCTCGATTTGGGCAAGCCCGAAAAGAGGCCTGAGGAGAAGAAAAACATGCTGATTGACATTGTGGACACTTCTCAGCAGAAGTCAGCTGGTCTGCTGATGGTGCACACCACAGATGGGGCAAAATCTGAGGATAACAGCTTGTCAGAGGGCGAAAGGGACGAGGGAGTGAGTCCCGACAACACCCCTGGGGAGCTTCGCG[A/T]CCCCAACCAGCCAGCTCCCACCAACCCCCCAGCCCCCAAGGCGCTATCAGCTGCTCCACATGGCAAGACCATTATAACTGTTAGCTCAGTGGATGAGCCTGTGAAGCTGCCCTTCGGCATCCCTCCACCGCCCTTGGCCTCTGTCGACATCGATGAAGAGTTTGTGTTTGCAGAACCCTTACCACCCCCACTGGAGTTTGCCAACAGTTTTGACATTCCTGAAGACCAGGCAGGAAGTATAGCTGAACTACTCAAACAGAAAGCAAATGGTACAAAAGGGCCTTCTCTTGCTCCCTACTATCCCGCGTTAGGTGGAGGGCATGCTGAAATCAAAAGATCAACAGTCCTCACAAATTGCACACCTCCCAGCTTCCCTCCTGGGCCTCTAGAGCCCTATGAACAAATCACTGACTCGGGCATTGAGGTAGACAGCCGGAGCAGTGGTGACCCCCAACTGGAGACCACCAGCACCATCTCTACTGTGTCCAGCATCTCCACCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa44255
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:
A > T
Consequence:
Essential Splice Site, Missense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000089981 | Essential Splice Site | 1260 | 1710 | 28 | 30 |
ENSDART00000145387 | Missense | 1324 | 1800 | 20 | 21 |
ENSDART00000089981 | Essential Splice Site | 1260 | 1710 | 28 | 30 |
ENSDART00000145387 | Missense | 1324 | 1800 | 20 | 21 |
ENSDART00000089981 | Essential Splice Site | 1260 | 1710 | 28 | 30 |
ENSDART00000145387 | Missense | 1324 | 1800 | 20 | 21 |
Genomic Location (Zv9):
Chromosome 25 (position 14623589)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 25 | 14266512 |
GRCz11 | 25 | 14362912 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGAAAGGGACGAGGGAGTGAGTCCCGACAACACCCCTGGGGAGCTTCGCG[A/T]CCCCAACCAGCCAGCTCCCACCAACCCCCCAGCCCCCAAGGCGCTATCAG
Long Flanking Sequence:
GACCTACAGCTCAGGAAGTGGGAATTACGTTCACCCAGTAACAGGCAAGCCACTTGACCCCAACTCACCATTAGCTTTAGCATTAGCTGCCAGAGACCGAGCCATGAGGGATCAATCACAGCCTCTTCCATTAAAAAGTGACCCATCCAAACTTGATCTCAATAAACCGCTTTTCATCGACACCAAGCTTAGACCAAATGTGGAGGTTGGCTTCTCAAGTACTGCTACCATGGGCCGTCCCCGTGGGGGCTTGAGGAGGCAGATGACTGAGTCCAAATATGAGACAGAATCCAAGTATCAGCTCGATTTGGGCAAGCCCGAAAAGAGGCCTGAGGAGAAGAAAAACATGCTGATTGACATTGTGGACACTTCTCAGCAGAAGTCAGCTGGTCTGCTGATGGTGCACACCACAGATGGGGCAAAATCTGAGGATAACAGCTTGTCAGAGGGCGAAAGGGACGAGGGAGTGAGTCCCGACAACACCCCTGGGGAGCTTCGCG[A/T]CCCCAACCAGCCAGCTCCCACCAACCCCCCAGCCCCCAAGGCGCTATCAGCTGCTCCACATGGCAAGACCATTATAACTGTTAGCTCAGTGGATGAGCCTGTGAAGCTGCCCTTCGGCATCCCTCCACCGCCCTTGGCCTCTGTCGACATCGATGAAGAGTTTGTGTTTGCAGAACCCTTACCACCCCCACTGGAGTTTGCCAACAGTTTTGACATTCCTGAAGACCAGGCAGGAAGTATAGCTGAACTACTCAAACAGAAAGCAAATGGTACAAAAGGGCCTTCTCTTGCTCCCTACTATCCCGCGTTAGGTGGAGGGCATGCTGAAATCAAAAGATCAACAGTCCTCACAAATTGCACACCTCCCAGCTTCCCTCCTGGGCCTCTAGAGCCCTATGAACAAATCACTGACTCGGGCATTGAGGTAGACAGCCGGAGCAGTGGTGACCCCCAACTGGAGACCACCAGCACCATCTCTACTGTGTCCAGCATCTCCACCC
Associated Phenotype:
Not determined