ZMP
GRIN2B (2 of 2)
Ensembl ID:
Description:
glutamate receptor, ionotropic, N-methyl D-aspartate 2B [Source:HGNC Symbol;Acc:4586]
Human Orthologue:
GRIN2B
Human Description:
glutamate receptor, ionotropic, N-methyl D-aspartate 2B [Source:HGNC Symbol;Acc:4586]
Mouse Orthologue:
Grin2b
Mouse Description:
glutamate receptor, ionotropic, NMDA2B (epsilon 2) Gene [Source:MGI Symbol;Acc:MGI:95821]
Alleles
There are 4 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa19927 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa25970 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa33073 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa19927
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000047094 | Nonsense | 201 | 1263 | 7 | 25 |
Genomic Location (Zv9):
Chromosome 3 (position 2077361)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 3 | 1544538 |
GRCz11 | 3 | 1319700 |
KASP Assay ID:
2259-2928.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGGTGGGTAAGTGGGAGAACGGCTCTCTCTCCATGAAGTATCACGTGTG[G/A]CCGAGGTTTGAGCTGTACTCTGGGCCGGAGGCTCGTGAGGACGATCATCT
Long Flanking Sequence:
CAACCATGCCACGATCAAAGTCTCTTAAATCCCCTTTCTTCCCCATTCTGATGCTCACTCTGACCTGCAGCAGATCCTCTTGACCATGTCTGCATGCTGAAATGCAGTGAGCTGCTGCCATGTGATTGGCTGATTAGACATCTATGTTAATGAGCAGTTGGACAGGTGTACCTAATAAAGTGGCCGGTGAGTTTATGTGTGTGTGTTTGCGTATGCTATAAAATATCTGCTTTGTCTGCTGGTAAATTATATCTGACACAAGCTACTATGATCCATCAGCTGAGTGACGTCTGCTTCTCTAGTGTTTATTGGGAATTATTTCTCACAAGTGAGCCTAAATACAATGTTAAAGTGTGTGTGTGTGTGTGTTTGTGTGTGTTTGTGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTTTGTGTGTGTGCGCGTGTGTGTGTGTGTGTGTGCGCACAGGTGGGTAAGTGGGAGAACGGCTCTCTCTCCATGAAGTATCACGTGTG[G/A]CCGAGGTTTGAGCTGTACTCTGGGCCGGAGGCTCGTGAGGACGATCATCTGTCCATCGTGACGCTGGAGGAGGCGCCGTTTGTCATCGTGGAGGACGTGGACCCGCTGAGCGGAACCTGCATGAGGAACACCGTACCCTGCCGGAAGCAGCTCAAAGCCCTGTATGAGCACAGAATACACACACACACACACACACACACACACACCCACACNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACTTACAACACACACCACAAACAGCTGATGCCGCAACACACACACACACACACACCACAGCTGACCAACACAGCCAGACACTAGCATTAGCACATTAGCAGTATAGCTAATATCTGTAGCGCAGAGGAGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa25970
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000047094 | Nonsense | 314 | 1263 | 9 | 25 |
Genomic Location (Zv9):
Chromosome 3 (position 2076596)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 3 | 1543773 |
GRCz11 | 3 | 1318935 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AACACGGCAAGAAGATCAACGGCACCTGGAACGGCATGGTGGGAGAGGTA[C/T]GAGAGTGTGTGTGTGTGTGTGATCTTCACTATCTGCTGCAGGCCTCTGTA
Long Flanking Sequence:
NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACTTACAACACACACCACAAACAGCTGATGCCGCAACACACACACACACACACACCACAGCTGACCAACACAGCCAGACACTAGCATTAGCACATTAGCAGTATAGCTAATATCTGTAGCGCAGAGGAGTGTACTACAGTGATCACACACAAACACACACACACACACACACACACAGGTACTGACGCAGATGTGTGTGTGTGTGTGTGTGTGCTCCAGCAATCAGACGCAGGACTCGGCCGTCTACATCAAGCGCTGCTGTAAAGGGTTCTGCATCGACATCCTCAAGAAGATCGCCAAGAACGTCAAGTTCACCTACGACCTCTACCTGGTGACCAACGGCAAACACGGCAAGAAGATCAACGGCACCTGGAACGGCATGGTGGGAGAGGTA[C/T]GAGAGTGTGTGTGTGTGTGTGATCTTCACTATCTGCTGCAGGCCTCTGTAAACACACAGCAGATCTGGTGTCCCCATTTAGGGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTATGATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTCTTTATTCTTAAAAATATGCATGGTTTCAATCTGCTTTTCTCACATCCCATCATCACACACACACACACACACACACACACACACACACACACACTCTCTGTCGTGCCCCAGTTTAGTCATGTGAAGTGGAGTTCAGGTATTTAGAGCTAAATTTACCAACACAGAGAGAGAGACAGACGGAGAGAGAGACAGCTTGATAACCCACTTACTGTCTGTTGTTGATCTAGAATCTCTCTCACACACACACACACACACA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa33073
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000047094 | Essential Splice Site | 485 | 1263 | 14 | 25 |
Genomic Location (Zv9):
Chromosome 3 (position 2074295)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 3 | 1541472 |
GRCz11 | 3 | 1316634 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGCTGGAGATGGGCCATTCGTTTGTTTGCTCACTCTGTGTTTGGTCTTCA[G/A]TTTCAGAATCCCAATGATTTCTCTCCTCCGTTTCGCTTCGGGACGGTCCC
Long Flanking Sequence:
CCAGAGGAACCACCAGCAAGATCATGGTCTCCGTCTGGGCCTTCTTCGCTGTGATCTTCCTGGCCAGCTACACCGCTAACCTGGCTGCGTTCATGATCCAGGAGGAGTACGTGGACCAGGTGTCCGGCCTCAGCGACAAGAAGGTGCATCAGTAGACCATCGAGAATGTGAAGCTCATGATTCTCTACAGCAGGGGTCACCAATCTCAGTCCTGGAGGTCCGGTGCCCTGCAGGGTTTAGCTCCAACTTGCCTCAACACACCTGCCTGGGTGTTTCAAGTATACCTAGTAAGAGCTTGATTAGCTGTTCAGGTGTGTTTGATTAGGGCTGGAGGTAAACTCTGCAGGACACCAGACCTCCAGGAACAAGTTTGGTGACCCCTGCTCTACAGTCAGCAGTGCGGTTCAGTACAGGACGGTTCAGTACCATAGTGAGCCGCACCGCTCCGCTGGCTGGAGATGGGCCATTCGTTTGTTTGCTCACTCTGTGTTTGGTCTTCA[G/A]TTTCAGAATCCCAATGATTTCTCTCCTCCGTTTCGCTTCGGGACGGTCCCGAACGGCAGCACCGAGAGGAACATCCGCAATAACTACAGAGACATGCACTCCTACATGGTGAAGTTCCACCAGCGCAACGTGGTCGAAGCCCTGGAGAGCCTGAAGACAGGGTGAGACTCCAGACACATATTCCCCAAAACACACACACACTCACTGAGGGTTCTGAACGCATGTGTGTGTTTAACCACAGAAAGCTCGACGCGTTCATCTATGACGCAGCGGTGCTGAACTACATGGCAGGCCGAGATGAGGGCTGCAAACTGGTGACCATCGGCTCCGGGAAGGTGTTCGCCTCCACCGGATACGGCATCGCCATCCAGAAGGACTCGGGCTGGAAGAGACAGGTGGACCTGGCCATCCTGCAGCTATTCGGAGACGGTAAACACAGACACACACACATGCAGACGCACAGACAGACGCTAGTCCGGTGATTCTGCCGGTGTGTGAAG
Associated Phenotype:
Not determined