ZMP
LOC100332318
Ensembl ID:
Human Orthologue:
GRAMD1B
Human Description:
GRAM domain containing 1B [Source:HGNC Symbol;Acc:29214]
Mouse Orthologue:
Gramd1b
Mouse Description:
GRAM domain containing 1B Gene [Source:MGI Symbol;Acc:MGI:1925037]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa23383 | Essential Splice Site | Available for shipment | Available now |
sa32222 | Essential Splice Site | Available for shipment | Available now |
sa23382 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa23383
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 > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000108574 | Essential Splice Site | 86 | 748 | 3 | 20 |
Genomic Location (Zv9):
Chromosome 18 (position 45280555)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 18 | 46873398 |
GRCz11 | 18 | 46871416 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TAATTGTTTTCCATCTCTTTCTCTTGCAGAAAAGCCAGAGCTGGTACAAC[G/T]TAAGTCACACCATTTCTATTTATAATTGTGTGTGTGTGTATACGTGTGTA
Long Flanking Sequence:
GATACACTTCTAATAAAAGCTTGCATCATTCATCAGTATATACACTTTTGTTCATTGTAAATTAGCAGATTGATTTCCTCTAATCACCTTTAAGAGTCCTTATTGTATATTTTGGCGAGAGTGGAAGCACATTGATGATCATGTAGACTGAACTCGTCTGTGTTGAGTTATAAATAGAGCGCTGGTGATGTGGGCTGTACACAAACACCCCTTACATGTCTATTACACTTGCTATTTTGGTTGCTGCGGGTGTTTTATTTCCATGACGCTTCAGCTGTACAGCTACTCATTAAACATCTATCTTTGTATCGCTGTATTTGTGGCCAAATGAAGAGTGCAATTATTGGCTGAAGGGAAACGTGGGTTTATAGCAGCTGCCACTGACCTGAAATCAGTCCGTAAACACACTCGCTGACAGCGGATGTTTGATTAATCCTCATCCCTGAAATGTAATTGTTTTCCATCTCTTTCTCTTGCAGAAAAGCCAGAGCTGGTACAAC[G/T]TAAGTCACACCATTTCTATTTATAATTGTGTGTGTGTGTATACGTGTGTATGTGTGTGTGTATACGTGTATATATGTGTGTGTGTATACGTGTGTATGTGTGTGTGTATGCATGTGTGTTTGTGTGTGTGTATGCATGTGTATGTGTGTGTGTATACATGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGCTGGAGGTTTTACTGATAATCATTGTTTGTCCACCTACCTTAAAATACTATTTAAACAGCCATAAATGTCATTATCTGTGTGTGTTTGTTTCTTTTTTACTGTTATTTGTTTTTGTTTTTAGAGAGAGAGAGGTTGTTTTATTCAAGCAGCAAGTTTTTGTTTTGTTTTGTTTTAGTTTTGAAACAAAACTAAAACAGGATCAGGATCCTTCCAAAAATATAATATACATATATAATATATCTTACAAAAATCTTGTCGACTATCTATGTTTTAGGAGCAACA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32222
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 |
---|---|---|---|---|---|
ENSDART00000108574 | Essential Splice Site | 305 | 748 | 9 | 20 |
Genomic Location (Zv9):
Chromosome 18 (position 45262809)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 18 | 46855652 |
GRCz11 | 18 | 46853670 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACCATCACCTCCACCACTCCACCCAGCAGCACCGATACACCGCTGTCCG[T/C]GAGTCTAAGAGCTCATGCTTGCTTTCTACATCTCCTTTTGTTGTTGTTGA
Long Flanking Sequence:
ATTTGTAACTCCTCCCTCTTTTAAAAAGAAGGATGACAGCCATTTCATAATTTCATTTGAATTTACAGCGACAGACGCCAAAATTACACAATGAGCATCAAAGCTAAAAGTGGCAGTTTCAATGAGTTATAAAACATTATTTGACTTGCATAACATCTTGTAAAAAGGGGCCCATTAAAGATTATGAGGGCACATGCATTTTAAAACAGCTGATAATGTACAATAAATACCTCAATATTTCATTAACAAATAGAAATTTCCTCGTTCTAATTCAAGGTGGTACATAACATAACTTGTCTCTGTGTGTTGTTTGTGCATGTTTAGCTACTGTGAGGAGATTCCAGCAGAGGAGAATGAGGTCAGTAATGATAACTCATCCAAAAGCAGCAGCGAGAACAAGCCGGACAACAACAGCTCTCCTCCAACACACAAGCGATCCATCACTCACTCCACCATCACCTCCACCACTCCACCCAGCAGCACCGATACACCGCTGTCCG[T/C]GAGTCTAAGAGCTCATGCTTGCTTTCTACATCTCCTTTTGTTGTTGTTGATGTTGTATATTGTCAGCTGTATGCCATTTAGACTTTAGCGCCCTCTGCTGGTTTCAGTTTGACATCTCTGCTGAGGAGTACACGGACTGTCTTGCTGATGGAGATCTGCTGCCGCTGCCTCTGCTGGCCGAGGAGAGGAACAGCGAGCCGGCCAGTCCTGTGGGCTCCGTCCTGCCACCAGCACTCGACTTCAACGACAATGAAGACATTCCCACAGAACTCAGCGACTCTTCGGAGACACACGATGAAGGTTTGGAGAGTAAAAGAGAAACTGAATGCTTTCCTGTAGCTTCCACTATGTTTAGAACTCAATATTTTTTTGACTGAAGATACATAGCATGCTCGCCCAAAGTTTATCAAACAATGGATACTTTGAAGATTGCAGAAGTTCTCAAAGAAGTTCTCAATAATTTCACAGTTTCTTAGTAAAAATGATTCTGTTAGCCAGTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23382
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000108574 | Nonsense | 655 | 748 | 18 | 20 |
Genomic Location (Zv9):
Chromosome 18 (position 45253033)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 18 | 46845876 |
GRCz11 | 18 | 46843894 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTCCCGGCAGTCTGGTGCTACTGGTGTTTCTGAATGTGATGCTGTTTTA[T/A]AAACTCTGGATGCTGGAGTATTCTGCACAGAGCCTCACCAGCTGGCAGGG
Long Flanking Sequence:
AGGTCTTACTAGATATTCTTGAAACACCCAGGCAGGTCTGTTGAGCCAAGTTGGAGCTAAAACCTGCAGGGCATTGCACCTCCACTAACGAGATTGGTGACCCCTGGTTTAGACCAAGGGTGCCCAAACTCGGTCCTGAAGGAAGGTAGCTATTCAAGCTCTTACTGAGCTTTTTAGAAACATCCGTGCAGGTGTGTTGAGGAAAGTTGGAGCTAAAATCTGCAGGACACCAGCCCTCCACGACCAAGTTTGGGCACGTCTGGTCTAGACATTTGTAGGAATATCTCAGGATTGACTTTGAATGGAATGCAGCAAATGTACGTCACGATGTAACATTTTCTAGACCTCCTCATCTATACAATCACTCCCACCCTATTCATCCAGCATTTATGTTGTGTTTTCCTCTGCTGAGTGTGTCCGTGTGCTCTAAGATCATGTGTATGTTTATTGTCTCCCGGCAGTCTGGTGCTACTGGTGTTTCTGAATGTGATGCTGTTTTA[T/A]AAACTCTGGATGCTGGAGTATTCTGCACAGAGCCTCACCAGCTGGCAGGGCTTACGCTTACATGAGAGGTACACAACACATGTACTAAATTGGGTGTAGTGTATGAGTGTTAGTAAGAATGTGAAAGAGTTTGGGTGTTTTTCAGTACTGGGTTGCGGCTGGAAGGGCATCCCGATGTAAAACATGCTGAAAAAGTTGGCTGTTCACTCACTTGTGGTGACCCCTGATAAATAAGGGACTAAGCCGAAGGAAAATGAATGAATGACCTCACCCCTCACCCCAAACTACCATGATATTGAGTCAGTTATGTTTTTTTAGACATGGGACGATGACCGATTTCAAGGTATATCCAGTGGCGTAGTGGTTGGGCCCGCAGGTATTAAGGGGCCCCGCGTCGTTGCGATTTTCAATAATTAAAAATCCGGCAACCGCAATAATCAAACTCTCTTGGGAACAACTGTGGTCGGAACCAAAGTTCACAGGTCTGTGTTCTCTGAACA
Associated Phenotype:
Not determined