TRPM7

Ensembl ID:
ENSDARG00000036232
Description:
transient receptor potential cation channel, subfamily M, member 7 [Source:HGNC Symbol;Acc:17994]
Human Orthologue:
TRPM7
Human Description:
transient receptor potential cation channel, subfamily M, member 7 [Source:HGNC Symbol;Acc:17994]
Mouse Orthologue:
Trpm7
Mouse Description:
transient receptor potential cation channel, subfamily M, member 7 Gene [Source:MGI Symbol;Acc:MGI:1

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa36550 Essential Splice Site Mutation detected in F1 DNA During 2018
sa39184 Essential Splice Site Mutation detected in F1 DNA During 2018

Mutation Details

Allele Name:
sa36550
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
A > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000052617 Essential Splice Site 1407 1771 37 47
ENSDART00000098433 Essential Splice Site 1407 1786 37 48
Genomic Location (Zv9):
Chromosome 18 (position 142051)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 123487
GRCz11 18 123487
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGCGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTC[A/T]GCACTCAGTAAGCAGGAGAGGACGCGCGTGTCGCTGGAGGACGTCTCTCG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39184
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000052617 Essential Splice Site 1675 1771 44 47
ENSDART00000098433 Essential Splice Site 1690 1786 45 48
Genomic Location (Zv9):
Chromosome 18 (position 147920)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 117618
GRCz11 18 117618
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTGGACGTATGAATACACACGAGGAGAGCTGCTGGTGCTGGACCTGCAGG[G/A]TTTGTGTCTAAACACACACGTCAGCAGGTTACACATATGGGGTAATGCAC
Associated Phenotype:
Not determined

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