ZMP
galcb
Ensembl ID:
ZFIN ID:
Description:
galactosylceramidase [Source:RefSeq peptide;Acc:NP_998276]
Human Orthologue:
GALC
Human Description:
galactosylceramidase [Source:HGNC Symbol;Acc:4115]
Mouse Orthologue:
Galc
Mouse Description:
galactosylceramidase Gene [Source:MGI Symbol;Acc:MGI:95636]
Alleles
There are 4 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa17897 | Nonsense | Available for shipment | Available now |
sa16336 | Nonsense | Available for shipment | Available now |
sa23042 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa17897
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 |
---|---|---|---|---|---|
ENSDART00000028044 | Nonsense | 56 | 664 | 2 | 17 |
Genomic Location (Zv9):
Chromosome 17 (position 18727920)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 18877931 |
GRCz11 | 17 | 18897767 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
RTGTTATATACTTGTTTTCCACAGGCGACATCGCGTTTACTTGTCAATTA[T/A]GAGGAGCCATATCRGAGTCAGATACTAGACTACCTGTTTAAGGTCTGTTG
Long Flanking Sequence:
ACATGGGGAATAACTCATTTCTTTCATGTTGTCCAATGTTGAATACTGAGCTAAGGCAAACTTCACTTTCAATTCTCTGACGCTAAACCACGCCCAAGGTAATGACGCACCACCACAGCGACCATAGACGCCTGAGAGGGGCGTGACTTTCGCTTCAAATCACCACCTATAGCGGAACTTGCAAGTCAGCTGATAATGTTGTAGGAACGCACGGGTTAGAATGTACATAGGAAATCAGTTTTGTGTGTTTTTGAGCATTTTTCTCTATATCAGTGGTTGTTTAGGGGAGAATTACGATATAGATGATAGTCTCGGATTAGGACAAACGTTTGATGGCATTGGTGGATTAAGCGGTGGTGGGGTGAGTTCACAGTACTGCGCTTCCTTTTTCGCAGTTTCTAAAGTGCTTAGTTGGTAAAACTGTTTACAGAAAATGTTTAAAAATACAATGTGTTATATACTTGTTTTCCACAGGCGACATCGCGTTTACTTGTCAATTA[T/A]GAGGAGCCATATCAGAGTCAGATACTAGACTACCTGTTTAAGGTCTGTTGGAAAAGAATGTGGTCAGACTACAATTTCTGAAATACTATTTTCTATAGTTTCTTTATAGACTATATGCATGTAAATGTGTATTTAACAGCCAAAATTTGGAGCCTCCTTACAAATCCTAAAGGTTGAAATCGGAGGTGATGCTCAGACTACAGGTAAACTCTGCTATTGAGGAAAAGTTGGTTTTATATTCGCACATTCGAACTTTCTAGTTAATAACAAACTTGTTATTATAAGAATTCTTTGCACGTTTTTAATAGGAAAACAAGTTATCAGCCAAAGACTATCAAAGTACAACATTGTTCACAGTCAATTAAATAATTAATTCTTACTTGCATGCTCTGACCAGCAGCGTGGTAAAGACAGGCCCATAGCCAGTCTGATGAAAATGGTGGTTCTTTTTTTTTTAGCAAAAAGTTAAACTTTTTGCTGTTATTTGCCTCATTTTCTAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16336
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000028044 | Nonsense | 78 | 664 | 3 | 17 |
Genomic Location (Zv9):
Chromosome 17 (position 18727759)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 18877770 |
GRCz11 | 17 | 18897606 |
KASP Assay ID:
2261-0855.1 (used for ordering genotyping assays)
KASP Sequence:
CTMTATGCATGTAAATGTGTATTTAACAGCCAAAATTTGGAGCCTCCTTA[C/T]AAATCCTAAAGGTTGAAATCGGAGGYGATGCTCAGACYACAGGTAAACTC
Long Flanking Sequence:
ACCACCTATAGCGGAACTTGCAAGTCAGCTGATAATGTTGTAGGAACGCACGGGTTAGAATGTACATAGGAAATCAGTTTTGTGTGTTTTTGAGCATTTTTCTCTATATCAGTGGTTGTTTAGGGGAGAATTACGATATAGATGATAGTCTCGGATTAGGACAAACGTTTGATGGCATTGGTGGATTAAGCGGTGGTGGGGTGAGTTCACAGTACTGCGCTTCCTTTTTCGCAGTTTCTAAAGTGCTTAGTTGGTAAAACTGTTTACAGAAAATGTTTAAAAATACAATGTGTTATATACTTGTTTTCCACAGGCGACATCGCGTTTACTTGTCAATTATGAGGAGCCATATCAGAGTCAGATACTAGACTACCTGTTTAAGGTCTGTTGGAAAAGAATGTGGTCAGACTACAATTTCTGAAATACTATTTTCTATAGTTTCTTTATAGACTATATGCATGTAAATGTGTATTTAACAGCCAAAATTTGGAGCCTCCTTA[C/T]AAATCCTAAAGGTTGAAATCGGAGGTGATGCTCAGACTACAGGTAAACTCTGCTATTGAGGAAAAGTTGGTTTTATATTCGCACATTCGAACTTTCTAGTTAATAACAAACTTGTTATTATAAGAATTCTTTGCACGTTTTTAATAGGAAAACAAGTTATCAGCCAAAGACTATCAAAGTACAACATTGTTCACAGTCAATTAAATAATTAATTCTTACTTGCATGCTCTGACCAGCAGCGTGGTAAAGACAGGCCCATAGCCAGTCTGATGAAAATGGTGGTTCTTTTTTTTTTAGCAAAAAGTTAAACTTTTTGCTGTTATTTGCCTCATTTTCTATTTATAGATGATATTTAAATACTGACTATTTAGTGACATTTTAAGACCTATTTTTAGCTGGATTTGCTTACCAGATGATCATCATAACCACACTTTTTTATGTTGCAAAAATATTTCCTAAAGATTTAGAGTAATGAATAATGAATAAATACTTATTTTTAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23042
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 |
---|---|---|---|---|---|
ENSDART00000028044 | Nonsense | 111 | 664 | 4 | 17 |
Genomic Location (Zv9):
Chromosome 17 (position 18726407)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 18876418 |
GRCz11 | 17 | 18896254 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGCCCTCACACATGCACTATGAAGATGATGAGAATTATTTTAGAGGGTA[T/A]GAATGGTGGCTAATGGTGGAAGCCAAGAAGAGGAATCCAAACATCACCCT
Long Flanking Sequence:
TGACTTTATATTAACTCAGATTGAATGTTTTCTTGCACAGCCGGATGTCGGACTCATGAAAAATAATAGTTTGCATTGGCCAAAACTGATTAATTGCAGTCACACTAGAGATAACCAACAGAGGATTCTGCTTGGTCTTAACTTTATGCTTTTTTTTTATTTTTATTTTTTTTATACAATTTATGATGGCATAGCCAAATAGGACAAATGAGCTCATGTATGCAACAAAAACTTTGTCAGTGAGGGGTGGGTCTTTCAAACCACGTGAACCCCCCTGGCTACAGGCCTGCAAGACCATGTCTCAAGTTGCCACTGCTCAGATAGTAACAAATGTGGGAAAATAAAACCAATTTTGCCTCAGTACCTGCTTCTTTTAAAACCTGTGAACAGCGAATGGTTGTTTACTGTACATTTATCAGATGACCTATGTAATGATTCACAGATGGAACTGAGCCCTCACACATGCACTATGAAGATGATGAGAATTATTTTAGAGGGTA[T/A]GAATGGTGGCTAATGGTGGAAGCCAAGAAGAGGAATCCAAACATCACCCTCATAGGTTAAAACAAATATTATTAATTGTTAGTTTTTAAAACAAATAAAGTACTAATCCTTCGTTTCTAATTGTGATATTTATATTTTAGCTTTAATGATTTGTCTATCGACAGGTCTACCATGGGCCTTTCCAGGTTGGGTTGGAAATGGTAAAAACTGGCCTTATGATTTCCCTGATATCACTGCGTCTTATGTGGTGGCGTGGATTCATGGAGCTAAGAAGTACCATGACCTGGATATTGACTATATCGGGGTAAATGCATCCCAATATATTTGATTCATTTTATTTTATTCATTACTGTGGCCATATTTATTACTTTGAATATGTATTTTTGTTTATGCAGATATGGAATGAAAAGAGCTTTAATGTGAAATACATAAAGGTAAGTAAAATTGAACATGTCACTCATTTATTTATTTAGTTTATTATTTAATGTAAATGTTGACTT
Associated Phenotype:
Not determined