ZMP
SORCS3 (1 of 2)
Ensembl ID:
Description:
sortilin-related VPS10 domain containing receptor 3 [Source:HGNC Symbol;Acc:16699]
Human Orthologue:
SORCS3
Human Description:
sortilin-related VPS10 domain containing receptor 3 [Source:HGNC Symbol;Acc:16699]
Mouse Orthologue:
Sorcs3
Mouse Description:
sortilin-related VPS10 domain containing receptor 3 Gene [Source:MGI Symbol;Acc:MGI:1913923]
Alleles
There are 5 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa32759 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa32760 | Essential Splice Site | Available for shipment | Available now |
sa18560 | Nonsense | Available for shipment | Available now |
sa19576 | Essential Splice Site | Available for shipment | Available now |
sa13192 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa32759
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000110573 | Essential Splice Site | 236 | 1039 | 2 | 22 |
Genomic Location (Zv9):
Chromosome 1 (position 48752260)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 47560287 |
GRCz11 | 1 | 48257250 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGCTGTATGACTTTCACCTTGGCAGCGTCACAGAGAGCACGCTATGGAGG[T/C]GAGCTAAAGCCACCATTTCTCTCTCTATCTATCTTTCTCTCTCTCTCTCT
Long Flanking Sequence:
CTAAGCCGAAGGAAAATTAATGAATGAATTTATACGTTACTTACTTTCTTTTTTTCCTCCAGGTTTAAACGTTACCATGACAAAGCACATTTTTATGTTACACTATCATTACTGTCTAGTTGTAATTCAGCTAATTCATGTTTCTATTAATATTTAACTTCTAAAAAAAATGCTAATATATTCGCTCATTTGGGAATCATGAAACTTCAAGTTCATTTTAACTCTTGTGCGCTCCAGAAGTTTTACTGTTAACCGTAATTGTTCACTACTTGTCCTGAAATATGGGACGTCACCTGTAGGTCGCTTTCACCAGAAGAAAACAATTGTCTTCAATGAATATAAATGTGATGGGGTGGAATAAGAGTAATGACTATATGTCGGGGAATAAATAAGTGCATACAGATTTATTCATTTTTATTCTCTTTTCACAGGTGATTCTGATTCTCACCAAGCTGTATGACTTTCACCTTGGCAGCGTCACAGAGAGCACGCTATGGAGG[T/C]GAGCTAAAGCCACCATTTCTCTCTCTATCTATCTTTCTCTCTCTCTCTCTCTCTCTCCCATCTTCGCTCTTTTTCTCCTCTCCATTACACTCTCTGTCCCTGGCAGAGTATTTGAGCGCTGCCGAGTGGAGTTACGTGATTTTGCCTGAAGCGAGGAGAGGCAGTGTTCACTTCAGGAGCCATTCTATCTCAAACATTACACTTGCGAACAGCCCATAATGCAGTTGCACATCTGCATGAATTTTCAATCTAATAAATGCATTGTTAATTGCGTTTCAGCAGTCTGAACTCATCGTCTTATGTTTTTTTTTTTTTTTTTGTTAGTGTTGTGTTGTATTTGCAACACAGTAAACATGCCAGATTTGTGCTAAAACATGCTAGGAACAGGCTAGCATGATGTTCATCCATGTTATTGTCAGAAATTTGTGTTAGCTTCATGAAGAGGTTTGTAATTTTCATTGGAAATCCATGAATGCTACATTGGTTATGTGAAGCACATC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32760
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 |
---|---|---|---|---|---|
ENSDART00000110573 | Essential Splice Site | 236 | 1039 | 3 | 22 |
Genomic Location (Zv9):
Chromosome 1 (position 48800341)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 47616143 |
GRCz11 | 1 | 48304469 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAAACAAAACATCTCCTGAATGGCATATTGAGAGTGTTGCTTCTATTTCC[A/T]GATCCACGGATTATGGCAGCACTTATGAGAGGCTGAATGATAAAGTGGGA
Long Flanking Sequence:
TATTCAACACATCATTTAATAGAGATCCTGCCTCCACCGTCCACACTTATGTCTACATTGCAAGGCTATAAATATCATTAGCCGATGTAAACAAATGAGCGTGTGCTGTGGATCAGTTGTCATTGTTATGCCCAGGGGTTGCAGGATGCTGTTAGTTTTGCCGTCTGAGGAATAAGGCAGAATTACTCAGCATATGCTCAGCAGATTGTGTTTGTCTTACTGAGCTTTTCTGCTCAACGCCGAGGATCAGGGAAATATAAATAGCCAGGAGCAAAAAAAAAAGTATGGAACACTCACAATGATATAATTTGAAGTTCTCTGAGTTCAGTCGAGGTCCACAAATTCCAATTTAGATTCATTTTGCTGCCGAATGCACTCATTTTTTGCTGGGTCGCAAACTGAGGGTCTACACACACACACACACACACACACACACACACACAATAGAAAGAAACAAAACATCTCCTGAATGGCATATTGAGAGTGTTGCTTCTATTTCC[A/T]GATCCACGGATTATGGCAGCACTTATGAGAGGCTGAATGATAAAGTGGGAGTGAAGACGGTGTTGAGTTACCTCTATGTTTGCCCCACCAACAAGAGGAAGGTAAGATGCCCTTTTATTCCCTTAGCTCAGAGTTATTTTTTAGTATTGTTATATATTTTTTTTTAATTCTGCTTTCGTGAAGCCTATAAAAATATCATATAACAACAACCTGTCAGCTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTCGTAAAAATATCAGAATATCAGAACCTATTTTATATTATTTTATAAAACCATCATATAACACATGAACAATGTTTTATTTATTTTTTAATTTTATTTTAACACAATAAATGTAATGCAATTATTGTAATGTAATTAACATTAAATTAACTTTAATTATTTTAATTAAATTAAATAAATTGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa18560
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000110573 | Nonsense | 747 | 1039 | 16 | 22 |
Genomic Location (Zv9):
Chromosome 1 (position 48928301)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | KN149942.1 | 7753 |
GRCz11 | 1 | 48424388 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTGGRAATTATTGTATGGTGGGATGGGACAACTCTAGGATCCTGTCTGCT[G/T]ARCCCTGCATATGCAGAGCACATGACTTTGAGTGGTGAGTTAACCAACGT
Long Flanking Sequence:
CAATTCACCTATAGTGTATTTCTTGGGAAACCAGAGCACCCGGAGGAAACCCAAGAGAACATGCAAACTCCACAGAGAAATGCTATCTGAACCAGCCGGGATTCCAACAAGCGACCTACTTGCTGTGAGGCGACAGTGCTAACCACTGAGCCACCGTGTTGCCCCTGGAGGGTTTATATAGTGGGTGTAATCTGTGTGAATAATCTTCAGCTGTGTGTGTTTCTCTGTCAGTGCAAATTGTTAACAGCTGTGGGTTTGCATTGCTGCAAAGCGCCATGGTAAATGTAGTCCAGTTGAATAGCGAGTAGCACATACAGCTCGCTGGAATGCCCTGTAATGAGTTTTGTGTACACTCCAGCAAATGACTGTTGCAGTTTCTGACTTTAATATTATTTTCTTAGGGTGAGCCGTGCATAATGGGTCAAAAGCAGATCTACATGAAGCGTCGGCCTGGAAATTATTGTATGGTGGGATGGGACAACTCTAGGATCCTGTCTGCT[G/T]AACCCTGCATATGCAGAGCACATGACTTTGAGTGGTGAGTTAACCAACGTAAACTAGTATCAGCGGATCATATATACAATTGAAGTCAAAATGATTAGCCGTCTTGTGAATGTTGTGAATTGTTTTTTTCCAAATATTTCCCAAATTATGTTTATCAGAGCAAGGAATTTTTCATGTTATTTCCTATAATATTTTTTCTTCTCGAGAAAGTCTTATTTGTTTTATTTCGGCTAGAATAAAGCATTTTTTTAAATATAAAAAAAAAAACATTTTAAGGCCAATATTATTAGCCCCCTTAAGAAATATTTGTTTTTGGTTATCTACACAGTAATTATACAGTAATTGTCTAATAACCAAACCTTGCCTAATTAATATGGTTAAGCCTTTAAATTGTACTAGCTGAATACTAGTATCTTGAAAATATCTAGTAAAAATATTATGTACTGCCATCATGGCAAAGAAGTATTTTCACTCCGTTAAACAGAAATTGGGGAAATAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa19576
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 |
---|---|---|---|---|---|
ENSDART00000110573 | Essential Splice Site | 758 | 1039 | 17 | 22 |
Genomic Location (Zv9):
Chromosome 1 (position 48942901)
KASP Assay ID:
2259-1049.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCCTCTTTTGC[A/T]GTGATTATGGTTTTGAGAGGAGAGGGGATGGAAACTGTCTGCCGGCGTTT
Long Flanking Sequence:
TCCGTCGGTTCGTCGGTCCGTCCGTCTGTCCATCCATTCATTCATTCATCCATCCACCCACCCACCCTTCCTTCCTTCCTTCCTTCCTTCCATCCATCCATTCATCTATCTATCTATCCGTCTATCTGTCTATCCATCCATCCATCCATCCATCCTTTCCTCTTTCCTTTCTTCCTTCCGTCGGTTCGTCTGTCGGTCCATCCGTCCGTCCGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACTTCCTTCCTTCCTTCCTTCCTTCCTTCCATCCATCCATCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCCTCTTTTGC[A/T]GTGATTATGGTTTTGAGAGGAGAGGGGATGGAAACTGTCTGCCGGCGTTTTGGTTCAACCCTTCTATAGTGTCTCGAAGCTGCAGCCAAGGGCAAAACTTCCTCAACAGCACAGGGTAAGAAAAATTTACCATACTTGCACATAAGGTTTATTTTCTGTCATGGTGGAGTTTAACTTTGCGCGACGTCACTGAGAGCCGATAGCTAAATCTGGCCTTCAGGCACAATTACTAGGCTATTTCAATGAGGACTCACTGTACCATAGGGTTACAGTGTATATGGGTATTAAACAAAGCTAAAGACGGATTAAGACTGACCCTATTGTATACGCTACTTTAGCAGTATTACTTTAAGACTGTATATTGTATTACGGTTGACTATTTCTCTTTTTTTCATGTAGTTCTAGTATTACAGTTTTTCCTCAGTGGCTTTGGTGCATTTCTCACAACACTATTTACATTTGCACAACAGTTCATGCATTTCTCAAAACAATTGTTGCAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa13192
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 |
---|---|---|---|---|---|
ENSDART00000110573 | Nonsense | 775 | 1039 | 17 | 22 |
Genomic Location (Zv9):
Chromosome 1 (position 48942953)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 47747288 |
GRCz11 | 1 | 48438172 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGATTATGGTTTTGAGAGGAGAGGRGATGGAAACTGTCTGCCGGCRTTTT[G/A]GTTCAACCCTTCTATAGTGTCTCGAAGCTGCAGCCAAGGGCAAAACTTCC
Long Flanking Sequence:
TCCACCCACCCACCCTTCCTTCCTTCCTTCCTTCCTTCCATCCATCCATTCATCTATCTATCTATCCGTCTATCTGTCTATCCATCCATCCATCCATCCATCCTTTCCTCTTTCCTTTCTTCCTTCCGTCGGTTCGTCTGTCGGTCCATCCGTCCGTCCGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACTTCCTTCCTTCCTTCCTTCCTTCCTTCCATCCATCCATCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCCTCTTTTGCAGTGATTATGGTTTTGAGAGGAGAGGGGATGGAAACTGTCTGCCGGCGTTTT[G/A]GTTCAACCCTTCTATAGTGTCTCGAAGCTGCAGCCAAGGGCAAAACTTCCTCAACAGCACAGGGTAAGAAAAATTTACCATACTTGCACATAAGGTTTATTTTCTGTCATGGTGGAGTTTAACTTTGCGCGACGTCACTGAGAGCCGATAGCTAAATCTGGCCTTCAGGCACAATTACTAGGCTATTTCAATGAGGACTCACTGTACCATAGGGTTACAGTGTATATGGGTATTAAACAAAGCTAAAGACGGATTAAGACTGACCCTATTGTATACGCTACTTTAGCAGTATTACTTTAAGACTGTATATTGTATTACGGTTGACTATTTCTCTTTTTTTCATGTAGTTCTAGTATTACAGTTTTTCCTCAGTGGCTTTGGTGCATTTCTCACAACACTATTTACATTTGCACAACAGTTCATGCATTTCTCAAAACAATTGTTGCAAACTGCAAAACCTAGTTGATAACCTGCAAAAGCGCATCACTTGCTCAAAATGG
Associated Phenotype:
Not determined