ZMP
LOC100004230
Ensembl ID:
Human Orthologue:
SORCS2
Human Description:
sortilin-related VPS10 domain containing receptor 2 [Source:HGNC Symbol;Acc:16698]
Mouse Orthologue:
Sorcs2
Mouse Description:
sortilin-related VPS10 domain containing receptor 2 Gene [Source:MGI Symbol;Acc:MGI:1932289]
Alleles
There are 7 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa11642 | Nonsense | Available for shipment | Available now |
sa21038 | Nonsense | Available for shipment | Available now |
sa31584 | Nonsense | Available for shipment | Available now |
sa31585 | Nonsense | Available for shipment | Available now |
sa21039 | Nonsense | Available for shipment | Available now |
sa7079 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa11642
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 |
---|---|---|---|---|---|
ENSDART00000111278 | Nonsense | 424 | 1133 | 10 | 27 |
Genomic Location (Zv9):
Chromosome 7 (position 41408230)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 39744487 |
GRCz11 | 7 | 40015504 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTCAGGTTCGTGGAGTCAAGGGCGTTTTCTTAGCCAATCAGAAAGTAGAT[G/T]GAAAAGTAATGACTCTCATCACCTACAACAAAGGCAGAGACTGGGAAGCG
Long Flanking Sequence:
AGCCCTGAGTTTGTCCTCTAAACACAAATTAAGATACTTTAGAGGAAATCCGAAGGCTCTTTTACCACTTAACAACAGTCACAAGATGTTCAAAGTCCAGAAAAAGATCCAAAAATATTGTCAATACATTCCATGTTAATTTTTTTTGTTCAACATTAATCACATCAAGCTTCAAGAACACTTTTGTGCACCAAAGTCTTTAACAATGATTTGGCAATGTCTTTTCTTTTGCATCAGTCCAGGGTGCGCATTTGCTACAAAAAAACATGCCATGTTGCCTTTATAGTCAGTAGCAAAACATATAAGCGTCAAAATTCGTCATAGTATATGCACACCCTGATCTTATGGGGAAGCCCGGCCTATAGCTTTACTAGGATTTGAGATGCTTATAACAATTTATATTGTCTTTAGAACGTTATGCTATGCTGAGAAATCTGTGTCTGTGTGTGTTTCAGGTTCGTGGAGTCAAGGGCGTTTTCTTAGCCAATCAGAAAGTAGAT[G/T]GAAAAGTAATGACTCTCATCACCTACAACAAAGGCAGAGACTGGGAAGCGCTCGCTCCCCCTGCAACTGATATGAACGGCAAACCTGTCAGCTGCAAACAGGTAAATAAATATATCTGCTCATTTATCATTCCAGATTCAATTTCTGGGCTATCTATCAACAAAACATAACCATTCTTTTTATTATTATTATTATGCAAAGAGATACAAAGATGTCATGATGTAAATCAAATACAAAAGGAACCAAAAACATACAATGACAGTAAACAACAGCCAGGTATGTGTGTGTAATCATAACTGTAACATAACAGTTTTACCAGAAAGACTTTAGGAGGCAGACAAACGTTTTAACATTTATTGTGAATTGTTTGGATAAATGTAAGTTCGTTACTGTCCTGTCAAAAAGTCATTTGATGTAAGCCATGTTTATGGTGCAGAACTCTGAATGAGCTGGCAGATCCTGCCTGAAGATGAGGGCAGGGCGAAGCCAACCCCCGATTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21038
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000111278 | Nonsense | 432 | 1133 | 10 | 27 |
ENSDART00000111278 | Nonsense | 432 | 1133 | 10 | 27 |
Genomic Location (Zv9):
Chromosome 7 (position 41408256)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 39744513 |
GRCz11 | 7 | 40015530 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCTTAGCCAATCAGAAAGTAGATGGAAAAGTAATGACTCTCATCACCTA[C/A]AACAAAGGCAGAGACTGGGAAGCGCTCGCTCCCCCTGCAACTGATATGAA
Long Flanking Sequence:
AATTAAGATACTTTAGAGGAAATCCGAAGGCTCTTTTACCACTTAACAACAGTCACAAGATGTTCAAAGTCCAGAAAAAGATCCAAAAATATTGTCAATACATTCCATGTTAATTTTTTTTGTTCAACATTAATCACATCAAGCTTCAAGAACACTTTTGTGCACCAAAGTCTTTAACAATGATTTGGCAATGTCTTTTCTTTTGCATCAGTCCAGGGTGCGCATTTGCTACAAAAAAACATGCCATGTTGCCTTTATAGTCAGTAGCAAAACATATAAGCGTCAAAATTCGTCATAGTATATGCACACCCTGATCTTATGGGGAAGCCCGGCCTATAGCTTTACTAGGATTTGAGATGCTTATAACAATTTATATTGTCTTTAGAACGTTATGCTATGCTGAGAAATCTGTGTCTGTGTGTGTTTCAGGTTCGTGGAGTCAAGGGCGTTTTCTTAGCCAATCAGAAAGTAGATGGAAAAGTAATGACTCTCATCACCTA[C/A]AACAAAGGCAGAGACTGGGAAGCGCTCGCTCCCCCTGCAACTGATATGAACGGCAAACCTGTCAGCTGCAAACAGGTAAATAAATATATCTGCTCATTTATCATTCCAGATTCAATTTCTGGGCTATCTATCAACAAAACATAACCATTCTTTTTATTATTATTATTATGCAAAGAGATACAAAGATGTCATGATGTAAATCAAATACAAAAGGAACCAAAAACATACAATGACAGTAAACAACAGCCAGGTATGTGTGTGTAATCATAACTGTAACATAACAGTTTTACCAGAAAGACTTTAGGAGGCAGACAAACGTTTTAACATTTATTGTGAATTGTTTGGATAAATGTAAGTTCGTTACTGTCCTGTCAAAAAGTCATTTGATGTAAGCCATGTTTATGGTGCAGAACTCTGAATGAGCTGGCAGATCCTGCCTGAAGATGAGGGCAGGGCGAAGCCAACCCCCGATTGGAGACGAGGCCGACCTGGTGGTGGTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa31584
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000111278 | Nonsense | 432 | 1133 | 10 | 27 |
ENSDART00000111278 | Nonsense | 432 | 1133 | 10 | 27 |
Genomic Location (Zv9):
Chromosome 7 (position 41408256)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 39744513 |
GRCz11 | 7 | 40015530 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCTTAGCCAATCAGAAAGTAGATGGAAAAGTAATGACTCTCATCACCTA[C/A]AACAAAGGCAGAGACTGGGAAGCGCTCGCTCCCCCTGCAACTGATATGAA
Long Flanking Sequence:
AATTAAGATACTTTAGAGGAAATCCGAAGGCTCTTTTACCACTTAACAACAGTCACAAGATGTTCAAAGTCCAGAAAAAGATCCAAAAATATTGTCAATACATTCCATGTTAATTTTTTTTGTTCAACATTAATCACATCAAGCTTCAAGAACACTTTTGTGCACCAAAGTCTTTAACAATGATTTGGCAATGTCTTTTCTTTTGCATCAGTCCAGGGTGCGCATTTGCTACAAAAAAACATGCCATGTTGCCTTTATAGTCAGTAGCAAAACATATAAGCGTCAAAATTCGTCATAGTATATGCACACCCTGATCTTATGGGGAAGCCCGGCCTATAGCTTTACTAGGATTTGAGATGCTTATAACAATTTATATTGTCTTTAGAACGTTATGCTATGCTGAGAAATCTGTGTCTGTGTGTGTTTCAGGTTCGTGGAGTCAAGGGCGTTTTCTTAGCCAATCAGAAAGTAGATGGAAAAGTAATGACTCTCATCACCTA[C/A]AACAAAGGCAGAGACTGGGAAGCGCTCGCTCCCCCTGCAACTGATATGAACGGCAAACCTGTCAGCTGCAAACAGGTAAATAAATATATCTGCTCATTTATCATTCCAGATTCAATTTCTGGGCTATCTATCAACAAAACATAACCATTCTTTTTATTATTATTATTATGCAAAGAGATACAAAGATGTCATGATGTAAATCAAATACAAAAGGAACCAAAAACATACAATGACAGTAAACAACAGCCAGGTATGTGTGTGTAATCATAACTGTAACATAACAGTTTTACCAGAAAGACTTTAGGAGGCAGACAAACGTTTTAACATTTATTGTGAATTGTTTGGATAAATGTAAGTTCGTTACTGTCCTGTCAAAAAGTCATTTGATGTAAGCCATGTTTATGGTGCAGAACTCTGAATGAGCTGGCAGATCCTGCCTGAAGATGAGGGCAGGGCGAAGCCAACCCCCGATTGGAGACGAGGCCGACCTGGTGGTGGTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa31585
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:
T > G
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000111278 | Nonsense | 671 | 1133 | 17 | 27 |
Genomic Location (Zv9):
Chromosome 7 (position 41428785)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 39765042 |
GRCz11 | 7 | 40036059 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAAAATAGAGCTTTACATCTCTCACTTTCTGTGTGTGTTCTCAGTGACTA[T/G]GGCTTTGAGCGAGCTCCCAGTCTCAGGTTAGAGGGGGATCGCTGTTATCC
Long Flanking Sequence:
TTCACATTTTTGGGTAAACTAACCCATTAAGTGAAGTACAACCATAATTATAATAAATGAAGAAAAAAAAACACAAAACAGTCATAAATTAGTTGTGTCTGTTATGAAAATTAATTGTCATCTAGATTATGAATCAGTTTACTATACCACGAATGTAAATGCATGACATGTTTTCTCCTACAGGGAGAGAAATGCATCATGGGCCAAGAGCGAGTTTACAGAAGGAGGAAAGAGACATCGTTCTGCATTAAAGGGAAAAGTTATACATCAGCGCTAACAGCCAAACCTTGCCCCTGCTCAGAGAAAGACTTCACCTGGTAGGAAACAGAGAGATAACCTTTGCACACTTCAAGTTAATTGCAATCAAACACTGACATCTTTGCTTTAGCTTAGAGTCCTGACTTCATTTTCAATCCCCAGTACTGTGCATTGTGAATTAGATCTGAGGCTAAAAATAGAGCTTTACATCTCTCACTTTCTGTGTGTGTTCTCAGTGACTA[T/G]GGCTTTGAGCGAGCTCCCAGTCTCAGGTTAGAGGGGGATCGCTGTTATCCGGACTTCTGGCATAATCCTGATGCTCCACCTGAAAACTGCCATTTAGGACACAGCTATAAATCTAGCACAGGGTAATGCACAGACACAGACACAGACACACACATGCACACGCATACATACACACACACACACACACACACACACTGTTAAACATTGTGAAATGTATAAAGCATAATCACCATGCTTACAGAATATATCCATTTTTACACTGAACAAGCATGGTAAATGTCAAATTGCGGAAAACACCCACTCATTCATGTCATAGACACCGTAAATGAAGGCTTTATTCAGACTGACAGTAGTACCAGTTTGTTTTTTTAAGCTTAAAAATATGAAAGCATACTTTTACACTACTTTTTATGTACTTCTAATAAATATACATTTACACACCTATAATATTACACTTACAGTATACTTAATTTATACTGACAAAAAAAGTTTAAACAAGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21039
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000111278 | Nonsense | 777 | 1133 | 19 | 27 |
Genomic Location (Zv9):
Chromosome 7 (position 41434440)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 39770697 |
GRCz11 | 7 | 40041714 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTGATTGTATTTGTTTCACTCCTCAGGGTGACACCAGCAGCACCAGGTA[T/A]CAGGTGGATTTAATGGACGGGGTCAGGGCTATATATGAGAACCTGACTGT
Long Flanking Sequence:
TATTTTTTGACAAATTTGAAAATGAGCTTTTAAAGAGAATTTTTTATTGTGAGTGTCTAAAATACTGCCAACAGACAGGGATATTTTTACATTAATTTGTGTTGATGAAAATTTTGTATATAATTTGTTGTAAATAATATTAACTTTGTAAAAAAAAAAACATTGAGAACGTAGAAATAAATTAAATGAAAGCTGCTGAAGGGGAGATTTATGGCTCAATGCAGAAAAACATATCTACAAAAGTTGTATAATTGAAATCTACAGATAAAGGTTAACAAAAGAAACACCTAGAAGCCTATTTTGGATGTTTTCTTTACAACAGACTGAAAATAACTATTTGAAAAAACAAAAACAAAATTAACTAGTGCATTAAAACAGTGCATATTCCTGCAGTGTCTTGAAAATTGTGTTTATAATTTGATAAACTAGAGAATTTTAGAGATCTGTAATTGTGATTGTATTTGTTTCACTCCTCAGGGTGACACCAGCAGCACCAGGTA[T/A]CAGGTGGATTTAATGGACGGGGTCAGGGCTATATATGAGAACCTGACTGTAACAGATGAACCCATTCAGCACCGTTATGAGAAGCCAGGAGTTTACCGGGTGAATGTGAAGGCTGAAAACTCTGCCGGACATGACCAAGCCATGCTTTATATCCAGGTCACAGGTCAGTTCTTCAAAAATAAGTGAGAACAAAGCAGGTTTAAATGAGTTTATATTCAATTTTAGAAGCTAGCCAGGGTAAACTTTTTTGAGGTTACACATACTGATGATCCACTTCAGGTATTCTGTTGACTAGAACTTTTGAATTACATGTCACCTAACTAATTCTCATTGGAGAGTAGAATATATATATATATTATTAAATCTAATTTATAGAATGTCTGTCGAGGGACCATCAAATCAATTGTTAGCAGGTATTAAGGGCTGGACGATATGGCAAAAATGCAATCTCAATTAATTATTTTCCATGTTGAACAATGTATATATTTTGATATCAGTTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa7079
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000111278 | Essential Splice Site | 1064 | 1133 | 26 | 27 |
Genomic Location (Zv9):
Chromosome 7 (position 41444173)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 39780430 |
GRCz11 | 7 | 40051447 |
KASP Assay ID:
554-5204.1 (used for ordering genotyping assays)
KASP Sequence:
GTTGCTGAGGCCAGAGGAGAGCAGCCTAACGCGTCCCTGGCTGCGTTTCA[G/A]AAAACTGCCAGGCAGAAACGTCTACGCTCAGATGCACAACGAGAAGGAGC
Long Flanking Sequence:
AGCTGTCTTTCTTCTCATAAGTTTGATCTCCGCTGCAGCGTTCATACTCTTCAAGTTTAAAAGGTTTGTCCTTTACTCCACTATTTGTAAAAAGCTAGTGTTTGACTTTTCCTGTCATTGCTTTAAAATGACTCATCAAATTGGATTTCCAAATGAATGGAATTAATGCAGCTGATATGATTTCATATCACGTCAGAGCTGTCTGTATTGTAGATAATAACACACTCGCACACACACACACCATTCTGCCTTGCTGCCCGTCACTGAAATGCATGATGCACAGGTGTACACAGACACACAGGTGATAGTGCTATTGATCCTCACTGTCCTGTCATACCCCATCACTGAAGAATGCATGTTCAGTCCCCACATGTCTAAATGACAGTCAGCTTATATAACGGAACATGAACTACAAAACTGTGACAGGAAAAACTACAAAAACCATGGTTGGTTGCTGAGGCCAGAGGAGAGCAGCCTAACGCGTCCCTGGCTGCGTTTCA[G/A]AAAACTGCCAGGCAGAAACGTCTACGCTCAGATGCACAACGAGAAGGAGCAGGAAATGACCAGTCCTGTCAACCACAGCGAGGACACGCAGAACATCATTCAGGGAGAAGAGTTCATCGACGACGACCTCGACTCACAGACACTAGGTGAATAATGCACTGTTAACACACATTACTAGTCGTAATAAATGGGAAATTTAGGTGATGAACGAGACCCTGACACAATGTCTGTCTGTCAGACTATTGGTCTGTCTGTCTATCCGTCTGTCTGTGTCTCTATCTTCAGGTGTCTTGTATAAAGAATGTGCTGTGTATACTGTATATTGTAGTCTTGTTCAATTTACAGTTTTTCTCAGTGGCTTTGGTGCATTTTTCTCAACACTATTTAAATTTGCACAACAGTTAATGCATTTCTCAAAACAATTAGTACAAACTGCAAAGCCTAGTTGATAAACTGCAAAAGCGCGTCACTTGCTCAAAAAGGATTGCTCATTCCTCAAA
Associated Phenotype:
Not determined