ZMP
SORCS1
Ensembl ID:
Description:
sortilin-related VPS10 domain containing receptor 1 [Source:HGNC Symbol;Acc:16697]
Human Orthologue:
SORCS1
Human Description:
sortilin-related VPS10 domain containing receptor 1 [Source:HGNC Symbol;Acc:16697]
Mouse Orthologue:
Sorcs1
Mouse Description:
VPS10 domain receptor protein SORCS 1 Gene [Source:MGI Symbol;Acc:MGI:1929666]
Alleles
There are 6 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa25656 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa44511 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa13076 | Essential Splice Site | Available for shipment | Available now |
| sa24855 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa1430 | Essential Splice Site | Available for shipment | Available now |
| sa39679 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa25656
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000114711 | Nonsense | 134 | 737 | 4 | 18 |
Genomic Location (Zv9):
Chromosome 1 (position 49169696)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 47978705 |
| GRCz11 | 1 | 48665589 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCTTTCCCCGGATACATTGACCCAAACTCACTGGTGGTCCAGGATGAGTA[T/A]GTGTTTGTCCAGGTCAGTAATCTATCGAGTGGAGACTAGTTCCCCTTCGG
Long Flanking Sequence:
CCTATAGATTGTATACGTTTCCTAACTTAAATGTATATAAAAATATGAATTAATAATATGCATTGCTAAGAACTTAATTTAGACAAACTCAAATGTGATTTTCTTAATATATTTATTTTCAAGCAGGTGTACTGTATGTCAGCCAAATATTTTCAATTTCAAAAAATTGTCACTTTTTACCAGGATCACATATTATTACTTCAACACATTTTTACTTCTAACAATAATTTTGTTTGGATTTTGAAAACATCCTTGTTGGCCAGTGTTTTAACGCAGCTTAATAATAGAAAGGCACATTTGCACAGTCAAACTATTCAATCCTTTTAATATTCTATCATATAGTGTATGGCATGACTCTCTCTCCTTTTCTTTCTCTTTCTCTCTCATCCTGCAGAGGCTCTTTATGTCACATGTAAGCTTCAGAACTGCACTGATGCCAACAAGGGAAAACCTTTCCCCGGATACATTGACCCAAACTCACTGGTGGTCCAGGATGAGTA[T/A]GTGTTTGTCCAGGTCAGTAATCTATCGAGTGGAGACTAGTTCCCCTTCGGGGGGAACTTCAGCACTATAAGTGGATTTGATTTGTAAAATCCACGCATTGGGGAGGTTCGGTTCAGAAGCTACTCGTCTGAAAGAGTATTGAACGGGCCAATTAAGAATGAATTGGCAGCGCAAGCCTGCGCAGGTGAGCGGCATAAGCAATCAACTGAGTATATAAGCTCACCTGGCGCCAGCAGACGCTATCCTTTTCGCTTCAGAGACTTTCTGATCGAGTCGATGAGGGTTCCTCCTGCTGTGACCAGCGATTCTGAGCGAACGAGAGCATTCTCCCGGTCCAGAGTGTGTACACGCAGTGGCAGACGGTCGAGCTGGGTTTCTCCCTTGCCTGGCGTTCTTTGGGTCCGGTCCTCCAGAGCGGTGCGTATAAAGTTGCAAACTTCACAGAAAGAGCAACACAGTCGTGCAGCACGTCCTTATCAGGACGGCGCTCCGACTGTGCG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa44511
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000114711 | Nonsense | 153 | 737 | 5 | 18 |
Genomic Location (Zv9):
Chromosome 1 (position 49159272)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 47969249 |
| GRCz11 | 1 | 48656133 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TACCCAAGGTGTCAACCGGTGGTCGGCCAATCTATTACGTGTCATCCAGA[C/T]GAGACGTGTTTACACCCATGAAGCTTCCCAAATACACCCTTCCAAAGGTA
Long Flanking Sequence:
TTTTTTCTTTTTTGTGTGTGTGTTTGAGATGCTAATGGTCTAATCTGATTCAAAGATCTATGCTAAGCTAAGCTAAGCTAAAAGTTATCCTGCCAGACCAGTAAATTGGCTGAATGAATTCAAAGATGGTACAACTCAACTGCTTAACTCTGAAGAGTTTTAAATAAGCCTATTTCAAAAAAAAAAAACCTTTTTCATCTTACCACAAGATGTAAACAGGCTTTATATGGTGCCATATTGAAGCAAATTAAAGCAAAGATAGAAGTGGATGCTCTTAATTCAGTCAGTGCAAAGTTACAACTTGCGATCCAATAATGATAACATGACGCATAATGACTGAATTGGGAAGAACATATCTGCAGCTCTTATATGTGACCAATCTCCTGGTGCCGCTTTAAGTGTTGCTTCTCTCTAAAGTGTCTTTGTGCTGTCTGTTTGTGATCCCTCCATTACCCAAGGTGTCAACCGGTGGTCGGCCAATCTATTACGTGTCATCCAGA[C/T]GAGACGTGTTTACACCCATGAAGCTTCCCAAATACACCCTTCCAAAGGTAGGCCAGCTCATTCGCACTCGCTCGACACGAAGTCAGAGTCTGACAGAGTAAACAGACTTTGCTATTTCAGACCCAGACCATCGTGTGCTTCGATGTTAGTCTTTGAAGCTTTACAAAAAAAAATAATAATAAAAAAATAAAAATGTGATTCTCTGGCATATATATAATATTAGTGTAAAACAGCTGAAGCAATGTTATAAATACTAGGCATATTATGATTTAAAGGTTTAGGGTTGGTAATAGTTTTGGCATGTACAGTACATTATTTAAGCAAAAACACTTAAAAATTCTTAGTTTTTATGGATTTACTGGATTTATTATGTTTAACTAATGATATTTCAAATAAGCAAGCCTATTGTGCAGTATTTATGGCATTGTTTTCTTATTTATTTTAGTTTGGATAGAAAAAAAGTTTTCTGATACTGAGTTTTCACTTTTTTAAAGTGATCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa13076
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:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000114711 | Essential Splice Site | 168 | 737 | 5 | 18 |
Genomic Location (Zv9):
Chromosome 1 (position 49159224)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 47969201 |
| GRCz11 | 1 | 48656085 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GACGAGACGTGTTTACACCCATGAAGCTTCCCAAATACACCCTTCCAAAG[G/A]TAGGCCAGCTCATTCGCACTCGCTCGACACGAAGTCAGAGTCTGACAGAG
Long Flanking Sequence:
TTCAAAGATCTATGCTAAGCTAAGCTAAGCTAAAAGTTATCCTGCCAGACCAGTAAATTGGCTGAATGAATTCAAAGATGGTACAACTCAACTGCTTAACTCTGAAGAGTTTTAAATAAGCCTATTTCAAAAAAAAAAAACCTTTTTCATCTTACCACAAGATGTAAACAGGCTTTATATGGTGCCATATTGAAGCAAATTAAAGCAAAGATAGAAGTGGATGCTCTTAATTCAGTCAGTGCAAAGTTACAACTTGCGATCCAATAATGATAACATGACGCATAATGACTGAATTGGGAAGAACATATCTGCAGCTCTTATATGTGACCAATCTCCTGGTGCCGCTTTAAGTGTTGCTTCTCTCTAAAGTGTCTTTGTGCTGTCTGTTTGTGATCCCTCCATTACCCAAGGTGTCAACCGGTGGTCGGCCAATCTATTACGTGTCATCCAGACGAGACGTGTTTACACCCATGAAGCTTCCCAAATACACCCTTCCAAAG[G/A]TAGGCCAGCTCATTCGCACTCGCTCGACACGAAGTCAGAGTCTGACAGAGTAAACAGACTTTGCTATTTCAGACCCAGACCATCGTGTGCTTCGATGTTAGTCTTTGAAGCTTTACAAAAAAAAATAATAATAAAAAAATAAAAATGTGATTCTCTGGCATATATATAATATTAGTGTAAAACAGCTGAAGCAATGTTATAAATACTAGGCATATTATGATTTAAAGGTTTAGGGTTGGTAATAGTTTTGGCATGTACAGTACATTATTTAAGCAAAAACACTTAAAAATTCTTAGTTTTTATGGATTTACTGGATTTATTATGTTTAACTAATGATATTTCAAATAAGCAAGCCTATTGTGCAGTATTTATGGCATTGTTTTCTTATTTATTTTAGTTTGGATAGAAAAAAAGTTTTCTGATACTGAGTTTTCACTTTTTTAAAGTGATCTTAAATTCAATATTATTAACCCCCTTTAAAAATACTAAAAACTTTCCTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa24855
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 |
|---|---|---|---|---|---|
| ENSDART00000114711 | Essential Splice Site | 277 | 737 | 7 | 18 |
Genomic Location (Zv9):
Chromosome 1 (position 49147087)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 47957134 |
| GRCz11 | 1 | 48644018 |
KASP Assay ID:
554-7892.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCAGGCTCCGTCGGCGGATCTCAGAGGAAACCGCATTCACTGCATGTTGG[T/C]GAGTGAAAAAAAACGGATGGAGAAAAAGAGAGATTTGTCCAAATGCTGGA
Long Flanking Sequence:
TTCATTCATTCAATCATTCATTCATTCATTCATTCATGTATTTATTTTTATATTTATTTATGTATTTGTTTATTTTAGTTTTATAGTATAACACACTGTGAGTGTACATGACTGATTATTTTTGTTCTCTTCTGACAACTTACAAAGTGTTCAGACTTAGAAACTGTGGCACATGATGTCAGACTTAACAAGCTTTTCAGAAGTTCACTTGAAAAGAAAAAGCCACATCAAGTACAGTAGTAAATGCACCACGGCTCACTTTTCTATAGAAGGATTTGGTGCAGAAATGATTATTAGTGTCGTGTACTGTATGTTCCTCATTATTGTACTTTGTTTATGTCCCTTTCCCTAGGTGGCCGGGATAAAAGGCATGTTCCTAGCCAATAAGAAGCTAAATAATGAGGTAAAGACATATATAACCTATAACAAAGGACGGGACTGGAGGCTCCTGCAGGCTCCGTCGGCGGATCTCAGAGGAAACCGCATTCACTGCATGTTGG[T/C]GAGTGAAAAAAAACGGATGGAGAAAAAGAGAGATTTGTCCAAATGCTGGAGTTATGAAATTTGACATTCATTTATGAGGTCAAAGCTCTTATGAATGGGCAATTTATCACATTTTAGCATATGAAACATTANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNAGAATTTTGTTTTAATTTCATTTGTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTGTATAATGTTGATACAAGGAAACCTACATTCTGCAGTCATGTGAATATTATCGAAATATATTATGATAAATAATAATAATATACAATAATTTAAGTAATATAATTAATATAATATAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa1430
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:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000114711 | Essential Splice Site | 337 | 737 | 9 | 18 |
Genomic Location (Zv9):
Chromosome 1 (position 49138399)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 47949068 |
| GRCz11 | 1 | 48635928 |
KASP Assay ID:
554-1358.1 (used for ordering genotyping assays)
KASP Sequence:
GCAACGTTAGCATGTTCATCACATCCGACGCTGGAAACACRTGGCGGCAG[G/A]TGACTCTGACGGTGGGGTGTTCAGCCAGATGGGGGTGGGCAGTAATTTCA
Long Flanking Sequence:
CAATTGTTGTTACTGATCCATCTATTGCTTTTTTTTGCCTATCCATTTTAGGATTTTTTTTTTTTTTTTTTTGTGCAGTACACAACAGAAAAAAGCAAGTTATCTAACTCTTATTCTGTCACAAAAGATATGATGTGCCACAGTGTTATGTGAAAAAGTAAAAAGAAAAAAAAGAGTGTATGATCTTCTGTAACTGACACATTCTTTTACAGTATGTCCCATAAATAACACACTGGCTTTTGTATCAAGAGAAATGCAAGTTTAGAAAAAGTATTGCCAACTTTTTCGAATGAATTATATATGACTTCTGTGTCACAAAAGATGCACAATCTACTCCATCTTTATATTCATATAGCTTTAGTTATCAGCTCTCTATTTGCTTGGCTAAGCATGACTGTAATTGTTCTTCTCTTTTCTTTACAGGTTCGATAGGCGCGGAGTTAACAAGCAGCAACGTTAGCATGTTCATCACATCCGACGCTGGAAACACGTGGCGGCAG[G/A]TGACTCTGACGGTGGGGTGTTCAGCCAGATGGGGGTGGGCAGTAATTTCAGGCACTGATGCATATCTGTGAGCGGATAAAAGCACGTGCCACGTATTTTAGAGCCGATAATCAAATGACACCTTCAGAGAAAACTAAATTCAATGACATATATGATGCCCGTGGGTGCATGCTTGATGATGCGGTTTAAATTTATGGGGCCAGCTGTCTAATTAAAAATGGAGAGCTCAAATAATTAAGAGAAAATTGATGTGGCAAAAAGTTAAAGCACGCTGGGTAGGGCACGGCTTTGATGTCATATATCTTGTCAGTAGGAATTACAATCACTGGGATTTGAGGAATAGCATCATTTCAAGGACAGCAGACCTGTGCTTGCCAGCGTTCATCTAATCAAATTGAAAGCCCTCCCAAGAAGAGTAAAAGAGATGAAATATTGCCATAACTCAGCCAATCTGACATTATGGATGAGAATAACACGGGAACATGTGTAACAATGCCCTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa39679
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:
G > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000114711 | Nonsense | 706 | 737 | 18 | 18 |
Genomic Location (Zv9):
Chromosome 1 (position 49109692)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 47919671 |
| GRCz11 | 1 | 48607093 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGCAGCCTGTGATCACGCTGGATGGGAGTGTGTCCTTCACCTTCTCCAGA[G/T]AGGGAATCAGCATCGTCACCGTACAGGTTTCTGCTGGGAACAACATCCTG
Long Flanking Sequence:
ACTATAAACTTTACTTATCCAAAGTTATATACAATTATTTATTTATTTTAAAACATAATATGGTTTACCCCATCTGTTTAGGCTTGAAAATCCCTAAATGAACAAAACATGAGAACTAGAAAAACACTACCAGTTTTCGTAACTCACTTCTTTTCTCGTCTCTCTCTCTTTCGCTTTTTCTCGCTCTTTCTCTCTGAGCAGGTCAGTTGGACTCTATCCATCTCTCCGCTCCTTTTGTAGCTGTGAAAAATAAAGAAGTCAATCTGACGGTGGTTCTCTACCCCAGCCAAGTAGGAACAGTCACCTACATCTGGTGGTTTGGGAACAATTCCGAGGTAAAGTGTTCATGTGTCTCTCACCTATGTGTGTGTCTCTGTGAGCAGCATGTAAATAAACTGTGCTGACAGGAGTATCTCTCGAGAGTATGTGTGTGTGTGTGATGGTGTTTTTCGCAGCCTGTGATCACGCTGGATGGGAGTGTGTCCTTCACCTTCTCCAGA[G/T]AGGGAATCAGCATCGTCACCGTACAGGTTTCTGCTGGGAACAACATCCTGCAGGACAGGAAAACCATCGCCGTCCACGGTGAGCTTACCACAGAGAGCAAACAGATTAAAGCTAGTCTTGTTAAATAAGAACTAAATTGTTTAAAGCATATACAGTCTAATCCAAAATTGTTTATACTTCTGCACTGGGAAAAAAAAAAAAGTTTCATTGGATTTACTACGTTTTTTAAGGTAAGTGGTTGCAAACAATTTTTATGGACTGAATTTAAACAAACAAATATGTCTAAAATGTTCAACGGACTTTCTTTGTTTAAATCTAGCCTATATAAATTGTTTGCAACCACTTACCCTAAAAAATGCATAAATCCAATGACAAAATTTTCAGTGTGGCAATTTCTGGAAAAAAAATGCTTTCTTCAAAAAAGTTACTTTTATTCAGCCAGCAAGTTTTTTATTTTATTTTATTTTTTTATTTTTTTATTTTTGACTGGAAATAGCACA
Associated Phenotype:
Not determined