ZMP
si:ch211-117c19.2
Ensembl ID:
ZFIN ID:
Description:
MAM domain-containing protein 2 [Source:RefSeq peptide;Acc:NP_001123869]
Human Orthologue:
MAMDC2
Human Description:
MAM domain containing 2 [Source:HGNC Symbol;Acc:23673]
Mouse Orthologue:
Mamdc2
Mouse Description:
MAM domain containing 2 Gene [Source:MGI Symbol;Acc:MGI:1918988]
Alleles
There are 6 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa12046 | Essential Splice Site | Available for shipment | Available now |
sa13995 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa12046
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:
A > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000083203 | Essential Splice Site | 11 | 680 | 2 | 14 |
Genomic Location (Zv9):
Chromosome 5 (position 56445868)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 5 | 51922138 |
GRCz11 | 5 | 52568731 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TATTTAAAGCTTTATAGTTTGGCTTTATTGATGTGAKGTTCTGTSTCTTC[A/G]GCTGTGGCTCTTGTAGCGCGGTCTCAGACGCAGCTTTTGCGGGGCTCCTG
Long Flanking Sequence:
TGAGCAAGAAGTATGTCATATCTGTCAGACGTTTACATAGCGGTAAACTCCTTACCTAAATAAGATCCATCACCGCTGCCTGTTCTGAAATAGAAACCTCAAGAACCACTCCCTCCTCCTACTGTCTGCCAGACTCAGCATGGAGAGTGAGTTCAGCGGTGTGTGTTCAGTGCGCTGTGCGTCTGCTGCCGTACGCAATCTGCGTTAGCGGAGCGCCGCTCTTCCACTCCAGCATCCCTGCAACTTTTGCCATGAGTTTTCTTCACCCCTTAACGTTTCTGGGTAGGTCATCACTTGATGTAATTGTCTGATTGCATTAATGAAGTTGTTTGCTTGCATGTTTCTGAGCATTTGTGTAAGTTTAATTCCTTCTTCTTCCAAACTGTGCAATTTTTTCGTTGCTGCACATTTGCATCTGCTAACATATTCACTATGAATGCAATGTATGTCTATTTAAAGCTTTATAGTTTGGCTTTATTGATGTGAGGTTCTGTGTCTTC[A/G]GCTGTGGCTCTTGTAGCGCGGTCTCAGACGCAGCTTTTGCGGGGCTCCTGCACATTCGAGGCGGACAGCTGCGGCTACACGTCTGATCCTGCTTATGCTGCCTGGACCATCAACGATGAAGGTATGAGAAACTCTCTTATTATTTGGATCCAGACACTTTTATTAGTAGGCTACTAGTTTCGTTGACATTTATGCCACAAAACTGTCAAACTGAACAAATGTGCTTGAATGGTTCCAAAATAATTCACTGCAGGCATCATACGTGCGTCAGACAGTAGGTGGCGCTATCAACTGTGTAGCCTACATTTGCGATTTAGTTAAAGTTGTATTATGGGCTAGAATCCGATTCCCTCTTCGGAATACTTGAAATTTAACCCCCAAAATATAGGCTACTTATGCTCATGTCAAAGCAGTTTCGTCAATCGAATTGTTTAGTCAGTTGACACGGAGGCGTGGTAGGTAGTGCTGTTGTCTCACAGCAAGAAGGTCACTTTTTCAAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa13995
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000083203 | Nonsense | 554 | 680 | 12 | 14 |
Genomic Location (Zv9):
Chromosome 5 (position 56390101)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 5 | 51866371 |
GRCz11 | 5 | 52512964 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AKYACACTAAGTTTCTCCTAYTCTGACTTCAAGGTTACTTCATGTACATT[G/T]AGGCCTCCCAYATGTTACCTAAGCAGTCAGCCCAGCTGATGTCCACTGAG
Long Flanking Sequence:
GTCATTTCGTGGGGGAAGGGAAAGCTAGGATATTTGATAAAATATTATGAGGCTAAATAATATTTAACAAAAATATGAAGTGTACATAAACATCATTTATAACAATTTCTAAAAACTCATATTAAAATAGAAGATTAGCACATTTGAATTTCAGAGTGACTTTAAACTTTCAGACTTTTCCTAATTGGTGAACACTACTATTTCAAAACAGGTCACTTTTTTCTGTTCTCTTTTTAGGACCCTTGAATCCACCTCCTGGACACTGTAACTTTGAAACTGGTGACTGTGGCTACACCCAGAAAAAGAAAGCTAAAAAAGGACATTGGCTAAGGATTCGAGGACAGACGCCCACATCTTACACCGGACCCAAGGGGGACCACACCTTAGGGGTAGGTGAGTCAGATTTATACTTCAGCTTAGAATGCTTTTATCTCTGATTTCTTGAGACAGAGCACACTAAGTTTCTCCTACTCTGACTTCAAGGTTACTTCATGTACATT[G/T]AGGCCTCCCACATGTTACCTAAGCAGTCAGCCCAGCTGATGTCCACTGAGCTGAGGGGCTCATCCATCCCGCAGTGTCTGATCTTCTTTTACCACATGTATGGCTCGGGCACAGGGACCCTGAGCATCCTGCTGCGTAAGGGGGACAAGGAAAGACTGCTTTGGTCTAGGCAAGGAGAACAGAGCGTGTCCTGGATGAAGGCCATGGTGGATTATGAGTGTTACACAAGGCACTGGGTTAGTGACATGTTCTTGCTGCTCTTTGAAAAGTATCTTTTGCAACACTTATATTACAGCAACCATTTGATCACTGAAACCATTGCATTTCTGATGTCCCAGGAAAATGACTTTATTATGTTTTTTGTTTGTAAAATGTACTTTAAGGTTTAATGTCTGGTTTATTGTTTGCAGGTTATATTTGAAGCCACCAGAGGATCGTCAATAAGGAGTGACATTGCGATTGATGATGTTGTGTTTAAAAAGGGACCTTGCAAAGGCAAG
Associated Phenotype:
Not determined