ZMP
LOC795669
Ensembl ID:
Human Orthologue:
ABCC3
Human Description:
ATP-binding cassette, sub-family C (CFTR/MRP), member 3 [Source:HGNC Symbol;Acc:54]
Mouse Orthologues:
Abcc3, Gm11169
Mouse Descriptions:
ATP-binding cassette, sub-family C (CFTR/MRP), member 3 Gene [Source:MGI Symbol;Acc:MGI:1923658]
predicted gene 11169 Gene [Source:MGI Symbol;Acc:MGI:3779424]
predicted gene 11169 Gene [Source:MGI Symbol;Acc:MGI:3779424]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa41927 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa21991 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa41927
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 > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000114196 | Essential Splice Site | 58 | 1532 | 2 | 35 |
Genomic Location (Zv9):
Chromosome 12 (position 923456)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 720580 |
GRCz11 | 12 | 726521 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGAAATATGATCTCATATGAATGAGAAGTGTGTGTGTGTGTGTGTGTGCA[G/T]GTTCTGGGCCTGATTCTGTGGATCGTCTGCTGGACGGATCTGTTTTCGGC
Long Flanking Sequence:
TTAATGATTTCATTATTATTTATCTATTTTTTCATATGATTAATTATTACAATATTATTTATTGTTTTATATCACTACTCCATTAATATTGTCATAAAACTTCATTAATTCATTATTATTTCATGATTTTAACATAATTTCATATTGTTTCATAATTATTTCATGGTAATTTATCGTTTGTTATTTTTATATTATTATTTTATTAATATTTTCATAAAAATAATCATTTCATTATTTTCTAAGTATCATTTTATGTTATTATTATTATTTTGATCTTGTTAATTATTTCACTATTTCTTATCTATCATTTGATGTCATATACTTTATTTAGTGATGTGTTATGTTGGACATGTGATCATTAGTTTTTGAAAAGTGTATTAATATTTCTTATATATTATATTTCTTAATTTTTTTTAAGCAAACATTTGCCTTTAAGTTTTCAGTAGAGTGAGAAATATGATCTCATATGAATGAGAAGTGTGTGTGTGTGTGTGTGTGCA[G/T]GTTCTGGGCCTGATTCTGTGGATCGTCTGCTGGACGGATCTGTTTTCGGCGTTTCACCAGATGAATCAGGGTTCTAAAATTTCTCCCATATATTTCGTCACTCCTTTAATAGTTGGCATGACAATGGTTAGTGCTTACAGTCATACATTATACAGCAGATATTAAATATGTACAGTACGATTTCAAAACAAGCTGCAATCATGAGTCTTTCTCATAACACTTATTTATTACATCAGAAATGTAGGTGAGTGTTTATTGGGTCGATTTAAGTGTGAGCTGTTTTATTAAATGGTGCATTGTGTGTTAGATTTCGCAAAGAGGCTTTTATTGGACAGTAAAAACTAAAATGGCCAAAATATTAATATGGTTTGTTATTGCTGTAATTTTTTTAGTTTTTTGTTGAATCCTATTTTCATGTAATATTTTGAGAATAAATGTTTTTTGTAATATATTTTATTGATTTGTTTTATTTATTTTATTTTAATTAATTGTGTTATTGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21991
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 |
---|---|---|---|---|---|
ENSDART00000114196 | Essential Splice Site | 1432 | 1532 | 32 | 35 |
Genomic Location (Zv9):
Chromosome 12 (position 979934)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 776952 |
GRCz11 | 12 | 782893 |
KASP Assay ID:
2260-4768.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGGCTGCCAAACTGGAGCTGGAGTGCTCAGAAGGAGGAGAAAACCTCAG[G/A]TGACGCTTACGGTTTAAAACACAATAATCAACAGCTTTCCACAGATTGTT
Long Flanking Sequence:
GCCCTTTTAGCTGCAAACCAGTACTGGGAAACACCCATACACACTCATTTACACACTCCTAGGGTCTATCTATCTATCTATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATGACTGATAGCCCCGCCCTAAATTACTGACAACCCTCACCTAAATGAGTGATAGCCCCGCCCTAAAGGTCTGACAGCCCCGTCCTAAATGACTGATAGTCCCGCCCTGTTTGTCTCTCATGTGTGTGTGTGTGTGTTTCAGGAGCCAGTTCTGTTCTCCGGGACGCTGCGCATGAATCTGGACCCCTTTGAGAGGTACAGTGATGAAGAAGTGTGGAAAGCTCTGGAGCTCTCGCATCTGCAGAAGTTCGTCACCAATCAGGCTGCCAAACTGGAGCTGGAGTGCTCAGAAGGAGGAGAAAACCTCAG[G/A]TGACGCTTACGGTTTAAAACACAATAATCAACAGCTTTCCACAGATTGTTTAGATGTTTGGACTAGAAACAAGACTAAAACTTTTTCTTGCAGCGCGGAAACATTCACTCAAACAATGTGTTCAACACGCATGATTCATTTAGACTTTATAAATAAATCATTAAAATCAATCGTTGACTCAAACATCAATACACTATACGTCTTACAATACTGTATGAGATAAACTAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTCAGTGTGGGTCAGAGGCAGCTGGTGTGTTTGGCTCGTGCTCTGCTCAGGAAGACTCGTATCCTGGTTCTGGATGAAGCGACGGCTGCAGTGGATCTGGAGACGGATGATCTGATCCAGAGCACCATCCGTACAGAGTTCCAGGACTGCACTGTGTTCACCATCGCACACAGACTCAACACCATCATGGACTACACCAGGTGCACACACACACACACACACACACACACACACAC
Associated Phenotype:
Not determined