ZMP
LOC799259
Ensembl ID:
Human Orthologue:
SLC5A7
Human Description:
solute carrier family 5 (choline transporter), member 7 [Source:HGNC Symbol;Acc:14025]
Mouse Orthologue:
Slc5a7
Mouse Description:
solute carrier family 5 (choline transporter), member 7 Gene [Source:MGI Symbol;Acc:MGI:1927126]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa34534 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa21408 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa21409 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa34534
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000086304 | Nonsense | 144 | 585 | 3 | 8 |
Genomic Location (Zv9):
Chromosome 9 (position 309698)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 9 | 149360 |
GRCz11 | 9 | 127929 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGCATGGGCGGCCTGCTGTTCATCCCCGCGCTGCTGGGGGAGATCTTCTG[G/A]TCGGCTGCCATACTGTCTGCCCTGGGTAAGAGCCTGCCGGCGGGGGGGAG
Long Flanking Sequence:
CCTGATGCGGTGGAGCATCTTCTCTTACTGTGGGATATTTTACCTCTGTGTGTGTGCTGTGAACTCATATTTCCTACACACACACACACACACACACACTCACTCACTCAGTGTTGTATGTGTTGTGTTGTGCCCTCAGCTACATGGGTTGGCGGTGGTTATATCAACGGGACAGCGGAGTCTGTGTATGTGCCCGGCTGCGGGCTGGCGTGGGCTCAGGCGCCCTTCGGGTACGCGCTCAGTCTTGTTGTAGGTGAGCTGGGGTTACACTTCAGAAATCTCCAGACCTCTGTGATTGGCTGATCTCTCACCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCTGCAGGCGGGCTGTTCTTCGCCAAACCCATGCGCTCTCGAGGGTATGTGACGATGCTCGACCCGTTCCAGCAGCTGTACGGCCAGCGCATGGGCGGCCTGCTGTTCATCCCCGCGCTGCTGGGGGAGATCTTCTG[G/A]TCGGCTGCCATACTGTCTGCCCTGGGTAAGAGCCTGCCGGCGGGGGGGAGAATGTGGTCAGTGTGCAGACTGCAGGAGATGAACATGAAGTTATGGAGATCCACACGTCAGCATGTGGGGAAGATGGCGCTGTACTTAACAACATCTCATTGTGGATACGTACCCTTGTCTACATTTCTGGAGATAGTGAAATCTGTACTCAGAGGTACGTCTGGCTGCATTTCGTCTGTGAAGTGAACGCTATGTGGCAGTATGATGTTGCCGACAGTTTCTGCTCCTTTTCGAGCTACCGCTGACTGTTTACCTCTGTATGGAGGTGTTAGCAGTTAGCCCAGTAGCTTGCAGCATACGCCACTGGACTTGGGATGTGGAGCGGACCGCAATGATGAGGTTCAAATCCCGCAAAGAATGGTTCCAGAAAGCAGATAAACAAAAGCAAACAACTGAATAAATAACAAAATGTGGTGAAATCATGCAGCCGTGACGGCTTTTCTTTGCTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21408
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:
A > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000086304 | Essential Splice Site | 374 | 585 | 8 | 8 |
Genomic Location (Zv9):
Chromosome 9 (position 313390)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 9 | 145670 |
GRCz11 | 9 | 124239 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGGAAGTCAGGTTTGTCCTCCAGCCTAATGGATTCTTCTGTTTTCTGTGC[A/C]GGCGTCAGACCGAGAGATCGTGTGGGTCATGCGGATCACCATCTTTGTGT
Long Flanking Sequence:
CTGGAATCAGACGTCGTACGGTCCGGTTGCTCCTGTGGACAAAGACGAGTCGGACATGATTCTGCCCATCGTCCTGCAGCATCTCTGCCCGTCATTTGTGTCCTTCTTCGGTTTGGGCGCCGTCTCCGCCGCCGTCATGTCATCCGCAGACTCTTCTATCCTCTCAGCCAGCTCCATGTTTGCACGAAATATTTACCAGCTTGCTTTCCGGCAGTCAGTAAGTCTGTAACACTGTTAACAGTATACCTCGTACATCTTTAAATCACGAAAGTCAGAGTGAGAATAGTTTGATTTAAACCACAAGAAGCAGCGAAAAAGACTAGCAAGTAGATGAGTTCACCTGTCGACTAGTGAGTAGATGAGTTCACCTGTTGATTAATGAGTACCTGAGTTTACCTGTTGACTAGTCAGCTCATGTGTTGTATGTTGACTAGAGAGTAGTTGAGTTTGGGGAAGTCAGGTTTGTCCTCCAGCCTAATGGATTCTTCTGTTTTCTGTGC[A/C]GGCGTCAGACCGAGAGATCGTGTGGGTCATGCGGATCACCATCTTTGTGTTCGGGGCTGTAGCGACGGCCATGGCCCTGCTGACGGGCTCAGTGTACGGCCTGTGGTACCTGAGCTCAGACCTGGTGTACGTCATCATCTTCCCTCAGCTGCTCAGTGTGCTGTTCATCAAGGGCACGAACACCTATGGCTCGGTGGCCGGTTACGTCTTCGGCCTGCTGCTGAGGATCGGCGGGGGCGAGCCGTACCTCCGGCTTCCCCCGTTCATCTACTACCCGGGCTGGCAGATGCGGGAGAAACAGCACCGTCTGACACAGGAGGTGGAGCGGTTCGTGGAGCAGAGATTCCCGTATAAGACGGTCTCCATGCTGGCTTCACTCCTGAGCAACGCTGCCTTCTCATATCTGGCCAAATACCTGTTTGAAAGCGGGACTCTTTCGCCCAAGTACGACTTTCTGGATGCAGTGGTTTCTAAACACAGCAAAGAAACGATGGACAAGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21409
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000086304 | Nonsense | 437 | 585 | 8 | 8 |
Genomic Location (Zv9):
Chromosome 9 (position 313582)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 9 | 145478 |
GRCz10 | 9 | 162588 |
GRCz11 | 9 | 124047 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCCTCAGCTGCTCAGTGTGCTGTTCATCAAGGGCACGAACACCTATGGCT[C/A]GGTGGCCGGTTACGTCTTCGGCCTGCTGCTGAGGATCGGCGGGGGCGAGC
Long Flanking Sequence:
TTACCAGCTTGCTTTCCGGCAGTCAGTAAGTCTGTAACACTGTTAACAGTATACCTCGTACATCTTTAAATCACGAAAGTCAGAGTGAGAATAGTTTGATTTAAACCACAAGAAGCAGCGAAAAAGACTAGCAAGTAGATGAGTTCACCTGTCGACTAGTGAGTAGATGAGTTCACCTGTTGATTAATGAGTACCTGAGTTTACCTGTTGACTAGTCAGCTCATGTGTTGTATGTTGACTAGAGAGTAGTTGAGTTTGGGGAAGTCAGGTTTGTCCTCCAGCCTAATGGATTCTTCTGTTTTCTGTGCAGGCGTCAGACCGAGAGATCGTGTGGGTCATGCGGATCACCATCTTTGTGTTCGGGGCTGTAGCGACGGCCATGGCCCTGCTGACGGGCTCAGTGTACGGCCTGTGGTACCTGAGCTCAGACCTGGTGTACGTCATCATCTTCCCTCAGCTGCTCAGTGTGCTGTTCATCAAGGGCACGAACACCTATGGCT[C/A]GGTGGCCGGTTACGTCTTCGGCCTGCTGCTGAGGATCGGCGGGGGCGAGCCGTACCTCCGGCTTCCCCCGTTCATCTACTACCCGGGCTGGCAGATGCGGGAGAAACAGCACCGTCTGACACAGGAGGTGGAGCGGTTCGTGGAGCAGAGATTCCCGTATAAGACGGTCTCCATGCTGGCTTCACTCCTGAGCAACGCTGCCTTCTCATATCTGGCCAAATACCTGTTTGAAAGCGGGACTCTTTCGCCCAAGTACGACTTTCTGGATGCAGTGGTTTCTAAACACAGCAAAGAAACGATGGACAAGACGACGCTGGTCGCCCATGACACCATCCTTCTGTCCGAGCTGTCCGCGGTGAAACCCAGACACACGAGCTCTCTGGCGGGAACATTCATCAATGCAGACGTCTTGAGGGACGAGGGCAGCGTGAGTCCAGATCTTGAGCACGAGTAGAGGAGAGAAAGGAAAGAGGAAGATCCTGAAGACCAGATCCATCAGT
Associated Phenotype:
Not determined