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 |
---|---|---|---|
sa13076 | Essential Splice Site | Available for shipment | Available now |
sa1430 | Essential Splice Site | Available for shipment | Available now |
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:
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