ZMP
galca
Ensembl ID:
ZFIN ID:
Description:
Galactocerebrosidase [Source:UniProtKB/Swiss-Prot;Acc:Q5SNX7]
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 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa25131 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa25131
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 |
|---|---|---|---|---|---|
| ENSDART00000053870 | Nonsense | 242 | 660 | 8 | 17 |
Genomic Location (Zv9):
Chromosome 20 (position 4828616)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 20 | 4743983 |
| GRCz11 | 20 | 4786896 |
KASP Assay ID:
554-7346.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTTTACAGTGTCCACTACCCAGGAACCAACACAGTAAAGGAAGCTCTGT[T/A]GACGGAGAGAAAGCTCTGGTCATCTGAAGACTACAGCACCTACAATGACG
Long Flanking Sequence:
ACAACAATCCACATCCATACTGGCGTTTAGCATTTCTGAGCAGCCCTCCTTCCTCACTACCGCTGAAAACGCACATCACGTGACCACACACACACGCATTCACACACACAGGCACACACACACATACACTGTCATGCACTCGAGACAGTGGGTCCAGGCAGTCAGCGGGTCAGTAGACTGGTTCAATCTTTCATTTTCACACTAGTACTTAGTCATTTTAGCGAACACCTCAGATACTGTTGGCTGGTTCCTGTTGGTTGTGTACCTTTTTTACCGACGCCATTATAACGACACCGATCACTGCCTATTCACGAGTCCCATATCTTATATCTAATATCCCATCACTTATTTACAGTTGGGTGTTTGGTACATTATGCCCTATCTACCCATATAATCAACCTACTAGCTGATCTAATAAGCATAAAACTAACCTGTAATCACGGTTTACATTCTTTACAGTGTCCACTACCCAGGAACCAACACAGTAAAGGAAGCTCTGT[T/A]GACGGAGAGAAAGCTCTGGTCATCTGAAGACTACAGCACCTACAATGACGACATCGGTGCCGGATGTTGGGCTCGCATTCTCAACCAGAACTACGTGAATGGCAAAATGACCTCGTGAGCTGATTTCACACACCCTTCTCTCTTTTCTTTATTGTATATGTGTCTTTATGCTGACCGACTGCTTTCTTTTAGGACTATATCCTGGAATGTAATAGCAAGTTATTATGAGAATCTGTCATTTGGTAGAGATGGTCTGATGACGGCAGAGGAGCCCTGGAGTGGACATTATATAGTGGAATCTCCAATATGGATGACTGGTAATGTATTTTTAATAGTCGTGAATCAGCACACATCATTTGTGTAATTTGTCACTTTCAAAATGGCAGATTTTTGGGTCAACATTTTTAAGCATTAATTCAATAATAATAATAATAATATTGACAAACAATTAAATTCTACCAATGTAAATCATACAAGTTTTCTCAAATTACTTTTCCATA
Associated Phenotype:
Not determined