ZMP
LOC560601
Ensembl ID:
Human Orthologue:
SLC24A6
Human Description:
solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 [Source:HGNC Symbol;Acc:2617
Mouse Orthologue:
Slc24a6
Mouse Description:
solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 Gene [Source:MGI Symbol;Acc:
Alleles
There are 4 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa10738 | Essential Splice Site | Available for shipment | Available now |
sa21030 | Essential Splice Site | Available for shipment | Available now |
sa27007 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa10738
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000129243 | Essential Splice Site | 105 | 291 | 2 | 8 |
Genomic Location (Zv9):
Chromosome 7 (position 40770780)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 39107037 |
GRCz11 | 7 | 39378054 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTTTTGCCTATTCACACCAAGTCTTCTGCCCCTAGCCATCACGATCTATG[T/C]AAGGAAACATTTGGCTTAGTCATCAAAAACGTTAACTGGTTGCATATCAG
Long Flanking Sequence:
AATCTGTTTACATACAACTCATTCCCCCTCCTGGGAATGCGCGGAGTTCACACGGACCTACAGAAGTTACACCGAGCCGCAAAGGAGATGAGGTGAGTTGGACAAAATCTCTCTGATATATGATTAATCGCATTACGAATTAAATACATGTCTGGTAAGTCAGTCGTAATCGTTTATAACGCTTTAACATCTTTCATTGTGTGTTAGAAAGTACACTCATGTACAATAACCAGTAATGTAGCGGACACATAACGCTCTACATGTTATTGACGTCTTCTTTATTTAGCTGCTGCTCTCCGAGTAGTCTGTGAGTCTCCCACAGCTGCATGTGTTGATGTGTTTTCAGTGTGATGTGGTGATGAACGTGTCTGCCAGTCAGAGATGCGAGTATGTGAAGAATACACCGGATTGTGCTTCAGATGAAGGATTCATCAAATACCCTTTTGTCACCTTTTGCCTATTCACACCAAGTCTTCTGCCCCTAGCCATCACGATCTATG[T/C]AAGGAAACATTTGGCTTAGTCATCAAAAACGTTAACTGGTTGCATATCAGTTAATGCAGTATTGTGCATATGTATTTGTTTTGCAGGCCATGCTTTTGTTTACATATTTACAACAAACACTAGGAACAATGAAGCAGTTTATTCTAATTTGCTTTGATAATTCTGTTGGTTTTGCATCTTATTTTTGTCTTGTCTTTTTTCTTTCCTCCTCTCTCTTATTCCCATCAGGTTATCTGGCTGTTGTTTTTGTTCCTCGTTCTTGGACTGATTGCATCAGACTTGTGAGTTGTGTATTTAAGAGAATTTAGACTGCTGCCCTTGTCTTAAAAAGAGAATTTAAATAGGAAGTAAAACTGTATCTCTCAATTGTTATTACATTTTTGTACTTTTTCACTCATGTCACAATTTCATCAGTTTCCCGTATGCATGGCCATTATGGAGATTCTCAGATGTAAACAACAGCATGGATTGCGCATTGCTCTACCACTGAAGATGTTGTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21030
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 |
---|---|---|---|---|---|
ENSDART00000129243 | Essential Splice Site | 177 | 291 | 5 | 8 |
Genomic Location (Zv9):
Chromosome 7 (position 40768192)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 39104449 |
GRCz11 | 7 | 39375466 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCTTTCTCTCACCCTCAAACTGCTGGTCTGGCCATTGGAGCACTTTTTG[G/A]TGAGGAATTAGCTCTGTTAAACATACACCAAAATTTACTTACTCAAACAC
Long Flanking Sequence:
AAAAAGTCTTACTCAGCAGTGGTAACCAAGATTGATTATTGGTTATTGTTTCATGTTGGTTATTATTCTAGGTACTGTTTGCTCAGAGTCTTATCCTGTTTGTGTTCTTGATGTGTAAGCATGAGAGAGCTCAATCGTGTTCTTGACATGTAAGCATTTGAGAGATCAATCTGTAGTGCTTTTTGGAGAGTGTGCGTGACTGAGAGGAGTGTGTAGTGGTGTGTGTTTGTGACTGAGTGGAATCCTAAGTGATGAGTTTGCCGTTTAATTTCTGGAAAGGGCCCATAGCCTAGAGTACAATTCAATTCAGCTTTATTTGTACCATGTGTACCATGTGGATGTGTGTTGGTGGACTGTTATTTTTGCCATTGTTTTCCATGACTGAGTTGAACAGGGAGTGACGTTCCTGGCTCTTGGAAATGGGGCTCCAGATGTGTTCAGTGCCATGGCTGCTTTCTCTCACCCTCAAACTGCTGGTCTGGCCATTGGAGCACTTTTTG[G/A]TGAGGAATTAGCTCTGTTAAACATACACCAAAATTTACTTACTCAAACACAAACACAAACACATATTAGGAATGTGGAGCTTTTAAATCTAAACCTTGATCTTCTAACTGAATAATAGCTCCAAAAAACAGTGTGCTTGAGTTGTGTGAGTGTAACCTTGTTGTATGACAGTAATCTTGGCATTTGTTTTGACCGAACAATGCCAGATGTGAGTGAATTTTTGAACTACTACTTGAAAATTCTCATGATTTGCTGGATTTATTAAGTATGGGTTGAGTAATTCTTTTTAGATATTTTCTTTTATTTTTATTTTTTGTCAAATAAGTTTTATTGAGACACAGACTCAAAACTCTCTTTTTACATATTTTGTCCACATGTAACATAGGCAAGACAAATAATAAAGTAAATGAAATAAATAAATAATAAAAAAAAGGAAAAAACTATATGAAAATCATAATAATAAATAAATAAATAAATAAAAAAACACCTGCATAACAAAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa27007
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000129243 | Essential Splice Site | 178 | 291 | 6 | 8 |
Genomic Location (Zv9):
Chromosome 7 (position 40766436)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 39102693 |
GRCz11 | 7 | 39373710 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTATTTTGTTTTTTGTTGTGACTTACTCTATGTTTCTTAATTGCTTTTTT[A/G]GGAGCGGGAATCTTTGTTACAACAGTGGTCGCGGGGAGTGTTGCTCTGGT
Long Flanking Sequence:
GGGGATGTACTATCCAATGAAGACATATGGAGTTCCTAATCTCTAAAAGTCTGAAAAGATTATTCTGGGTTAATTAATCTATTCTAATTGGTTAAATGATTTCCATTCTATGTTTTCATAGTCTGATAACACTTCATTCTAAAAAAATTAAATACAATAAATAAATATATTACACTAAATAACAATATGTAACACCAAAGACTAATGTATTACGCTAAATACTAATTGCTTAACTCTTAAAATCATGCTTTAATGTTGCTGAAAAACATTTTTATGCCAAAGAAATCCAGAAAATATGAGAAATTTCAAGTGGTATCTTATTCTTTTTTTTGTTACGTGTATATACATAATTGTGTGTGTACATGTGTATATTATAATGTTGATTCATTGACATATTTATGTTCATTCATAGTAAATATAGGTCTCTTTTTGCACTAAATAAAAACAAAAGTATTTTGTTTTTTGTTGTGACTTACTCTATGTTTCTTAATTGCTTTTTT[A/G]GGAGCGGGAATCTTTGTTACAACAGTGGTCGCGGGGAGTGTTGCTCTGGTTAAACCTTTTACTGTGGCGTCTCGTCCATTCCTTCGTGATGTCATTTTCTACATGGCTGCTGTGTTTTGGACCTTCACTGTCCTGTATAAAGGCCACATTTCCTTGGGAGAATCCGTGGGTCCGATAATTGTTTACTTGACTTTCACTTCACCCTATTTAAACCAACTCTCAATTTATATTGAAGACATACACATTTCACTGTTAATACAAACTTCAAGGTTTTCAATTGAATAAGAAACAGATTAAATGTTGACAAAGTGATTACATGTGACAAAAACGTACATGTTTTCTTGCTCTGTTATCTTTCACAGGTTATTTGGGGATGTATATTGCATATGTTTTTACTGTGATTCTGAGCTCATACATTTACAACCGTCAGAAGCATCAGCTAACAGAATCACCCCAGAGCTCCGACAGAGAACAGGGTGAGGAGATTGATATAACTATGG
Associated Phenotype:
Not determined