LOC100333724

Ensembl ID:
ENSDARG00000074149
Human Orthologue:
ITPR1
Human Description:
inositol 1,4,5-triphosphate receptor, type 1 [Source:HGNC Symbol;Acc:6180]
Mouse Orthologue:
Itpr1
Mouse Description:
inositol 1,4,5-triphosphate receptor 1 Gene [Source:MGI Symbol;Acc:MGI:96623]

Alleles

There are 8 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa10895 Nonsense Available for shipment Available now
sa31844 Essential Splice Site Mutation detected in F1 DNA During 2016
sa35136 Essential Splice Site Mutation detected in F1 DNA During 2016
sa21954 Essential Splice Site Mutation detected in F1 DNA During 2016
sa21953 Nonsense Available for shipment Available now
sa12719 Nonsense Available for shipment Available now
sa27817 Essential Splice Site Mutation detected in F1 DNA During 2016
sa21952 Essential Splice Site Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa10895
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000031993 Nonsense 235 2782 7 61
Genomic Location (Zv9):
Chromosome 11 (position 36810974)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 35708202
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GGAAGATTGTTTTATTTAWGAAGTGGAGCGACAACAAGGAGGCYATTCTT[A/T]AAGGGGTAGATGACCTATGAAATGTCATTTTTTTNYAAGATATGATGCTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa31844
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 2016.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000031993 Essential Splice Site 342 2782 11 61
Genomic Location (Zv9):
Chromosome 11 (position 36806290)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 35703518
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTTCTGTTTCCTGCTTCAGGTGGCAGATTTTTCACCCTTTAACTTCCAGG[T/C]ACAGTCAATCTCTCAAACGGCTCTCACTACTGTACCTTCATGTTCATCTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa35136
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 2016.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000031993 Essential Splice Site 987 2782 23 61
Genomic Location (Zv9):
Chromosome 11 (position 36775444)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 35672672
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGACATTCTGGTGATGGATACCAAGCTAAAAATCATAGAGATATTACAGG[T/C]GATTACAAACATTAAATAGTGGAACATGGAATAGCAATTAAATTTCAATA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21954
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 2016.
Mutation:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000031993 Essential Splice Site 1188 2782 28 61
Genomic Location (Zv9):
Chromosome 11 (position 36771129)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 35668357
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AAAAAAGACGGACGGAAATGGCAGTGACAATTACAGAGACGTAAAAGAGG[T/A]AAAGTGTCTTTCACACGCACGCACATTTAGCTTTGTGTAGCAGTCAGCGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21953
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000031993 Nonsense 1468 2782 33 61
Genomic Location (Zv9):
Chromosome 11 (position 36757565)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 35654793
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ACCAGCAATCACATGTGGAAGCTCTTTGAAAACTTTCTGGTCGACATATG[C/A]AGGGTAACGAAAGCTTATTCGGGGATTTTTAGCAACCCCAATTATTTGTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12719
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000031993 Nonsense 1883 2782 44 61
Genomic Location (Zv9):
Chromosome 11 (position 36685802)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 35583030
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGTCAGAGAAGTTCTTYAAGGTGTTTTACGAGCGRATGAAACTCGCCCAG[C/T]AGGAGATCAAGGCCACAGTGACGGTGAACACCAGCGATCTAKSCAGCAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa27817
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 2016.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000031993 Essential Splice Site 2337 2782 52 61
Genomic Location (Zv9):
Chromosome 11 (position 36670273)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 35567501
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTCTTGGTAGCATTCTTCTATCCACTGGAAGGTGGAGGTGTCCGTGGAGG[T/C]GAGACAAATTTTTTTTTTTATGTTTGACGTGAAGTTTTATGTGTAATATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21952
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 2016.
Mutation:
G > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000031993 Essential Splice Site 2450 2782 54 61
Genomic Location (Zv9):
Chromosome 11 (position 36655247)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 35552475
KASP Assay ID:
2260-4544.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCATATGCAGCCTTGGGGTCTTCGTTCACGTCTTCTTCTATAGTTTACTT[G/T]TGAGTACAAACACAAGCGCTCATTCACTCCAGCTCATCTTTCACACATCG
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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