Busch Lab

ZMP

ENSDARG00000088167

Ensembl ID:
ENSDARG00000088167
Human Orthologue:
SH2D2A
Human Description:
SH2 domain containing 2A [Source:HGNC Symbol;Acc:10821]
Mouse Orthologue:
Sh2d2a
Mouse Description:
SH2 domain protein 2A Gene [Source:MGI Symbol;Acc:MGI:1351596]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa16543 Nonsense Available for shipment Available now
sa40907 Splice Site, Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa16543
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
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Mutation:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000127358 Nonsense 75 434 2 6
Genomic Location (Zv9):
Chromosome 7 (position 30630742)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 29023084
GRCz11 7 29294234
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACTGTAGTACAGTAACTWTCGCTGTTTGCAGGGAAGCAGARGATCAGCTC[A/T]GAGACAGGGATGTTGGATGCTTCCTTATCAGACTCAGCGAGAAAGCCATT
Long Flanking Sequence:
ATTCACCATGGAGGGAGGTCAGAAAGAGCAGATCCTCCAGTGGTTTGTGGAGACTCAGGCTATGTTCATCCTGTCTGATGGAAACTTTCCACGCTGGTTCCAAGGTTTCATCTCCAGACAGTAAGAACTAATAAGAGACGAGAGGTTTGCTAACCATAACTGTTACATTGTGAGCTGTAAAACATTATGAACGGCTATAGGCTGCAGGTGACTTATAATGCAAATGTCTGTTTGAAAATGGAGGCAGTTAAGCCATCACTAGGACTTGACCCGTTCAAAGGGTACACTTCTGTATTTAATGGATACATGTTAGGATTCATATTAATGCTTTAAAGTGATATATTAAAACCTAAAAGTGTTATAAAGATGATTTAGCAACTAAAAAGTATAAAAATGTGCCTTTAAAAAAGGGTAGCCCCTCAGTTATAGCTTTATTTCTTAGAGGGGGGCACTGTAGTACAGTAACTATCGCTGTTTGCAGGGAAGCAGAAGATCAGCTC[A/T]GAGACAGGGATGTTGGATGCTTCCTTATCAGACTCAGCGAGAAAGCCATTGGATATATTCTTTCATACAAGTAAGAATGAGAACAAACAGTCAGCAATATCATGTTGCACAGCATTTAATAATTGTCTTTAAATGTTAGTTCACATAATACAACTATTGGTTGTCTGGTTAGAGACCAGAAAAAAATTTTATTAAAAAAAAGAAGACTTAATGTTGACAATTTGATGTTACTGAGCTATTTAGTTTTCTGTACAAGCATTGTTTCTTAATGGTTCACTATAACTAAAGAGATATTATCAAATGGGACTTTGAATGTGTATTGTAAATTGTAATGTGATACATAATATAATCATTTTATATTCTTTATTGTGTCAAAAATGTAGATAATGGTTCTAAAACAGTTCTTCAATGTTTAATGTTGACAGAGGTCAGGATCGTTGTCGGCATTTTGTCATAAATCAAACGAAAACTGGCCTGTTTGTCGTTTCTGGTGATTCTAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40907
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > T
Consequence:
Splice Site, Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000127358 Splice Site, Nonsense 223 434 4 6
Genomic Location (Zv9):
Chromosome 7 (position 30633107)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 29025449
GRCz11 7 29296599
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCAATCGGAAGCTCACAACCTCCACCTCTATTGACAGGAACAGCCTGTCT[C/T]AGGTAACAATGTCAACTACTTCCTTGGATACAATCTATGCTTTTTTACAT
Long Flanking Sequence:
CAACTTATCCAGCACGTTTTTACGCAGCGGATGCCCTTTTAGCCGCAACCCATCTCTGGAAACATCCACACATTCAATCACACACACTCATACACTACAGGCAATTTAGCCTACCCAATTTACCTGTACCGCATGTCTTTGAAGAACATGCAAACTCCACACAGAAACGCCAACTGAGCCGAGGCTCGAACCAGCGACTTTCTTGCTGTGAGGCGACAGCACTACCTACTGCACCACTGCGTCGCCAGCAGAATGCTATCATATCCAGAAATGTCTTGCACTACTAATGTTCTTTTGTGTTATTTTTCTAGGATGATGGAAACGAGCTTTATGATGTGGTTCAAAATAGTCCCATAGTTACATCAGGAGTGAGTGTAAAGGCTCTAACAAGTTTATGGGAACAAGCTACCAACTGCCCACACAACATGGCTCCTGTCCTGCCTTCTAAAAGCAATCGGAAGCTCACAACCTCCACCTCTATTGACAGGAACAGCCTGTCT[C/T]AGGTAACAATGTCAACTACTTCCTTGGATACAATCTATGCTTTTTTACATACTCAGTATTGAGTTTCATTCATGTGTCAAAATCATTAGGCAATGAAAATCCCATCTCTGCCAAAGAAAAACGCACCACTTCGGAATTCTTTAAGCGCTGGTCTTCCTGGTACTAATCCTTCACATGAACAACACAGCATTACAGAATCAAGGACATCTGAGCACTACAGCTCTCAGTTATGGCCTACCCATCATGAAAACGGTCAGTCTTTAACTTCTAACTCCTATAATCCTACGCCCTCCATGCCTCAACAACCTCCTCCAGCTCCATTGATGACAGCCTCCTGTTCTTACGCTGTTCTTGACCCTAAAAAAATGCATTCTGGAGCTGGTCGAATGGCGAATATGGAAGAAACAGAACTACAGCCCAATCCACTCTATCAGGCCTCAACTGTTGCGTACGCTGGGCTGAAGAATCAACCTGAGGTTGAGTATGACAACCGTGCAAAT
Associated Phenotype:
Not determined