ZMP
slc8a2b
Ensembl ID:
ZFIN ID:
Description:
sodium/calcium exchanger 2 [Source:RefSeq peptide;Acc:NP_001116756]
Human Orthologue:
SLC8A2
Human Description:
solute carrier family 8 (sodium/calcium exchanger), member 2 [Source:HGNC Symbol;Acc:11069]
Mouse Orthologue:
Slc8a2
Mouse Description:
solute carrier family 8 (sodium/calcium exchanger), member 2 Gene [Source:MGI Symbol;Acc:MGI:107996]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa28535 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa35989 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa28535
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 |
---|---|---|---|---|---|
ENSDART00000063721 | Essential Splice Site | 744 | 961 | 10 | 11 |
ENSDART00000097701 | Essential Splice Site | 744 | 961 | 10 | 11 |
ENSDART00000144567 | Essential Splice Site | 631 | 848 | 10 | 11 |
Genomic Location (Zv9):
Chromosome 15 (position 41694292)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 43019699 |
GRCz11 | 15 | 42976131 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCATTGGTGGATATAAAAAAAGCTTCCTTTGATTGCCGCCTTTTCTCCTC[A/C]GGTGACGGTGATGAAGATGATGAGGAGGGTCGAGAGGAGCATCCGCCGTC
Long Flanking Sequence:
AAAAAATTTTGTGATGTTCATTCATTTATTCATTCATTTTCCGTCAGCTTAGTCCCTTTATTAATGAGGGGTCGCTACAGTGAAATGAACAGCCAACTTATCCAGCATATGTTTTACACCGCAGATGCCCTTCCTGCTGCAACCCAATACTGGGAAACATCCATACACACTCATTCACACATTCACACTCACACACTACGACCAATTAAGTTTAACGCATTCCTCTATAGAACATGTGTTTGGACTGTGGGGGAAACCGGAGCACCCGGAGGAAACCCACACCAACAAGGGGAGAACATGCAAACTCCACACAAAAGTGCCAACTGAAGCAGCCGAGACTCGAACCAGCGACCTTCTTGCTGTGAGGCGAAGTGCTAACCACTGATGATCACATAATGTTCAATTTCTTTAAGTATTGCAGGATTAAATGTTTTTTTTGTGCGTGAATTTGCATTGGTGGATATAAAAAAAGCTTCCTTTGATTGCCGCCTTTTCTCCTC[A/C]GGTGACGGTGATGAAGATGATGAGGAGGGTCGAGAGGAGCATCCGCCGTCCTGCTCTGATTACGTCATGCATTTTCTGACGGTCTTCTGGAAGGTTTTGTTTGCGTTCGTTCCTCCCACCGAGTACTGGAACGGCTGGGCCTGTTTCGTGGTTTCCATCACGGTGATCGGGCTCCTGACGGCCGTCATCGGGGATCTGGCGTCGCACTTTGGCTGCACTGTGGGCCTGCGGGACACCGTCACCGCCGTGGTGTTTGTGGCGCTCGGCACTTCCATACCAGGTGCGCTCTCTGCTATTACTACACATGACTGAGTACATTACCGACATATGGTGTTTATTGTAAAGTAGGTTACAGATGAAAATAAGTTTATTTTTGCTCTTCATGAATGCAGAGAAACAGAATATTGAATGAGAAAACAGTGGGCGTGGCTTGTTTTTTCTACTGCGAGCTGATTGGAAGTAGTAAAGTAGGCATTTCATTCAGAAAGATCTTAGGGAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa35989
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 |
---|---|---|---|---|---|
ENSDART00000063721 | Nonsense | 946 | 961 | 11 | 11 |
ENSDART00000097701 | Nonsense | 946 | 961 | 11 | 11 |
ENSDART00000144567 | Nonsense | 833 | 848 | 11 | 11 |
Genomic Location (Zv9):
Chromosome 15 (position 41699185)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 43024592 |
GRCz11 | 15 | 42981024 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTCTCCCGACTGCTCACTACACTCCTATTTCTGGGTCTGTGGTTCCTCTA[C/A]ATCCTATTCTCCAGCCTGGAGGCCTACTGCCACATCGAGGGCTTCTGAAC
Long Flanking Sequence:
CCACACAACTGTGTTTAAACCTCATATAAATATGATTTTTGCATAATAGATCCCATTATGCAATGTCTAAGAACTTTCCAAAGCACTTCGTTTTTTGAGAAAATCTGTTGTTGAGCCGTATTGATATGCAACTCTACCACTAATGTTAATTTTTTTTCTTTATTTTTTTCAGACACATTTGCCAGCAAAGTGGCTGCAAAGCAAGATCAGTACGCAGACGCCTCCATCGGAAACGTCACTGGCAGCAATGCCGTCAATGTGTTTCTGGGTATCGGAGTGGCCTGGTCGGTAGCAGCCGTGTACTGGGCCGTCCAGGGAAAGCGATTCAACGTGGACCCTGGCTCTCTGGCCTTCTCCGTCACCCTCTTCACTATCTTTGCCTTCATCTGCATGGCGGTGCTGCTGTTCCGGCGCCGGCCGTCGATCGGAGGAGAGCTGGGCGGCCCTCGAGTCTCCCGACTGCTCACTACACTCCTATTTCTGGGTCTGTGGTTCCTCTA[C/A]ATCCTATTCTCCAGCCTGGAGGCCTACTGCCACATCGAGGGCTTCTGAACAGCTTTCTTTTCCAACATGCACTGATGTTTACCCTCAAATCGAGAGGCTCCGTTTTACGTGACACACAAATTTGCACACACTTTAGGAAAACACGTGAATTGCTGAACGCACTACTAATATCGGTAGAGAATCTGAAGTTGTAGGAATAAAAGATGAGGAAGCAAAGCATGTAGCAAAAGAGGGCAACGATGAGTGTAATGTAGTTAAAAAAGGAACGATGCTGTAAATTAGTCTTACATCTTTTGGTCTCGAGGGAAGAATTGACTTTCAATTTGCATTGTCACTAAACAGTTTTTTATTTATGGTTCAAGGGCACAATTAATCAGAGTAGAGATTTTAAAAAAGAGTCCTCAGAACTATAGTGACGCTAATAAAAATGCACAAGCGTTAACAGATCAGCAGTTTTGCTTCAGCTCTCTGCATCTAAAGCGATCGCTGCTTGAGAGATT
Associated Phenotype:
Not determined