ZMP
ABCC6 (2 of 3)
Ensembl ID:
Description:
ATP-binding cassette, sub-family C (CFTR/MRP), member 6 [Source:HGNC Symbol;Acc:57]
Human Orthologue:
ABCC6
Human Description:
ATP-binding cassette, sub-family C (CFTR/MRP), member 6 [Source:HGNC Symbol;Acc:57]
Mouse Orthologue:
Abcc6
Mouse Description:
ATP-binding cassette, sub-family C (CFTR/MRP), member 6 Gene [Source:MGI Symbol;Acc:MGI:1351634]
Alleles
There are 6 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa33821 | Nonsense | Available for shipment | Available now |
| sa963 | Essential Splice Site | Available for shipment | Available now |
| sa31502 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa33821
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:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000065433 | Nonsense | 447 | 1507 | 10 | 31 |
Genomic Location (Zv9):
Chromosome 6 (position 10959520)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 6 | 10813146 |
| GRCz11 | 6 | 11048573 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCAGTGTGGCTGGCACCCATTGAGGTCACACTCTGTCTCTTTTTTCTTTG[G/A]CAGGTGAGGGCTCATTTATTTGCTATTATAATATCTCAGTATTCGGGAAC
Long Flanking Sequence:
CCAGGTATACATCCATGCTAAAATATCAAGGTGAAAGACATCAAAGCTTGCGTAGTATAGACCCAGCTCCCGATATTGAGAATAGATTAACGGTTATTTTTTTTTCGCCAGATAAGAGTCTCGCGTTAACGCAGCAAGTTAACGCCGATAACAGCCCACCACTAAAATAAACATTCATTTCCATGATTTTATGGACCAAACAGGCTCAATGTAAAGATTAAGAAGGTGTCTGTTTTTGCGCATAATGTTGTTAGACTAACGAAACTATAATGTTGTGTTTAAACTTTCAAGCAACACAATTTTAATCAGTGCCTTTGTCTCTGCATTCTTGTTTTTTCTCAGTCTCTTGTTATGAACAGTTCAGCGCGCAGAACCTGCACAGTAGGGGAGATAGTCAATCTGGTGTCTGCCGATACACAGAAGCTGATGGATTTTGTGGTGTATTTCAATGCAGTGTGGCTGGCACCCATTGAGGTCACACTCTGTCTCTTTTTTCTTTG[G/A]CAGGTGAGGGCTCATTTATTTGCTATTATAATATCTCAGTATTCGGGAACGTGGCTGAATATTTGTTTTAGCTTTCCAATAAAAATAAGCAAGACTTTTCTTATTTGACTTATTTCAGCATTTGGGACCCTCAGCACTTGCGGGCATTGCCACAGTGATTTTCATCTTTCCTCTGAACGGATTTATTGCAAGAAAGAGAAGCAAGCTCCAGGTATTGCATTGTTTTAAATTAGGATATTTGTGTTCTCACTTACCTTATTTGAGGCCTGGACTCCTTAAAGAAGAAAATCTAAATTCAAGAGAATACTTTAACTTATCTTAACAGATTCATCCACTCATTCTAAAAACATGTTTGTAGATTAGAGGGAGTTTAAATTTAGGTTTTGTTTTTCAACATCTGAAACATTTGAAATCCCCCAATTGCAATTTTAAAATTTTCCTCTACATCATAGGTCTCAAACTCTATTCCTGGAGAGCCTCAGCTCTGCACAGTTTTGCTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa963
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 |
|---|---|---|---|---|---|
| ENSDART00000065433 | Essential Splice Site | 750 | 1507 | 17 | 31 |
Genomic Location (Zv9):
Chromosome 6 (position 10964178)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 6 | 10817804 |
| GRCz11 | 6 | 11053231 |
KASP Assay ID:
554-0868.1 (used for ordering genotyping assays)
KASP Sequence:
CAGATCTGGACAATCTACCTGCAGGAGATGCCACTGAGATTGGAGAGAAG[G/A]TGAGACACCTATGCTTTACCCAAAGTAGAGTAATGAGCTAAAGTTATATT
Long Flanking Sequence:
CTTTGAAAGGCATGTCATGATTGTACAGTAGATTACCTTAATGACATTCTTGTTTTAAAATATTATATATATATATATATATATATATATATATATATAATGCAGAGGTGTACTTACATGCAGATGGGGTACAGTGGTCTGACAACAATGTGAATGCATTCAATGTAAATCTGTAAATAAACAAGCCATTTTAACAATTAGAAAAAGTTCCAAAGCAGTAAAATGCTATTTCCATTTTTTCATTATTTAAAAGGGACTAATCACATTCCAAAATTGTATTAGTTGATTTTTTTAATAGTATTTCTTTGCTTTTGTCTATTTAGGGCTCCATTGCCTACGTACCCCAGCAAGCTTGGATCCAAAACGCCAGTCTGCAGGATAACATTCTGTTTGGACGGGAAAAAAAAGAAAGCTGGTACCAGCGAGTGCTGGAGGCCTGTGCCCTGTTGCCAGATCTGGACAATCTACCTGCAGGAGATGCCACTGAGATTGGAGAGAAG[G/A]TGAGACACCTATGCTTTACCCAAAGTAGAGTAATGAGCTAAAGTTATATTATAGAATGATAACGCGGCAAAATACGCAAAATCGAAGATTCCCGGAAATATTGCCTGAGTCACAGAGAGAAAGTGACACACATTTATCATTTTACTGCCTTCCGAGTAACCTGAGGGTCCGTCCTGAATGGATAGTAAAAATAAAAAGGGATATCAGACCTCATTTTGAGCTAAGGGAAATGGCACTAGTTAGCTAGTGTTTTCTTTCCTAAACACACGTTTTAGATGCCATTTATTAAACTCAAGTTAATAAACTGATTCTTTCACTATATTAGGCTTATCAAGATACTGAATTTCAGTACTGAAATAAAAAAAAAAAACATAAATTTTCCGTTAACATTTAAGCACCGCTGATTTGCCATAGTATTCACCAGTGCTCAACGGAAATGACTGTGATTGGCCATAAAGGTCATCAGTTCACCGATCTTCATCGAGTGCAAACACAAACAA
Associated Phenotype:
Normal
| Stage | Entity | Quality | Tag |
|---|---|---|---|
| Larval:Day 5 ZFS:0000037 |
whole organism ZFA:0001094 |
quality PATO:0000001 |
normal PATO:0000461 |
Mutation Details
Allele Name:
sa31502
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:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000065433 | Nonsense | 971 | 1507 | 22 | 31 |
Genomic Location (Zv9):
Chromosome 6 (position 10967284)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 6 | 10820910 |
| GRCz11 | 6 | 11056337 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTATTTCTCTACGCCTTCCAACAAGCAGCGTCTCTGTCAAATAATTACTG[G/A]TTGAGCTTGTGGGCCGACCAGCCTGTGATCAACGGCACTCAATTAAACAC
Long Flanking Sequence:
ACAAACAGCAAGCTTGATTTTTTTGGCCAGGAGGTATGTTTGAGCTTAACCATGGCTCTTACTTTAGGCATTAAACCAAATCTGACTTCAGTGTTACTCTCTATAGTACTAATCACACTCAGCTGTATCAGTTCTTCACTAAATATCCTAAAAGTGTCAAGACTTAAATGATTTAAACCTCTTTCAGTGGTGACACAAACAGCATTGCTATTGAACCACTACCTGATTCTGATGAAGACCACATCCCAGAGGACCTGGGGAAACTTACGAAGGTTGACAAAGCACGGATAGGCAGAGTAAGATTTATTATTAAATTCTTTTTCTTCTCAAAATATTTTTGTTTTATTTAATCAAATGTTTGACTTTGTCTTCTTTCTGTCCCAAAAGGTCAAACTTGAGATGTACATCGAATACTTCCGTACCATTGGTTTACCTTTAATAATTTCCATAGTATTTCTCTACGCCTTCCAACAAGCAGCGTCTCTGTCAAATAATTACTG[G/A]TTGAGCTTGTGGGCCGACCAGCCTGTGATCAACGGCACTCAATTAAACACAGATCTGAAATTGGGAGTCTATGGAGCTCTCGGCTTTGCACAAGGTGAGTAAAGTTTTACCGCTTTACCACAAACAACTTCAGTTGATGTAAGTCAGTGTCAGATGTAACTAATTCATCATTTGTTGTATGTAGGAATTTCCATATTTGGTACCACTGTGGCCATCTCATTAGGGTGCATCATTGCCTCTCGTCATCTTCACTTGGACCTTCTGAACAATGTTCTCCACTCACCCATGTCGTTCTTTGAATCCACTCCCAGCGGCAACCTCCTCAATCGTTTTGCTAAAGAGATAGACGCCATAGACAATATGATTCCAGATGGGCTAAAGATGATGCTAAGTTACTTCTTCAAACTCACAGAAGTCTGTATCATTGTGTTGATGGCCACTCCTTTCGCTGCAGTTATCATCCTCCCTATGGTTTTCCTCTATGGTTTCATACAGGTATG
Associated Phenotype:
Not determined