ZMP
ACVR2A (2 of 2)
Ensembl ID:
Description:
activin A receptor, type IIA [Source:HGNC Symbol;Acc:173]
Human Orthologue:
ACVR2A
Human Description:
activin A receptor, type IIA [Source:HGNC Symbol;Acc:173]
Mouse Orthologue:
Acvr2a
Mouse Description:
activin receptor IIA Gene [Source:MGI Symbol;Acc:MGI:102806]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa18285 | Nonsense | Available for shipment | Available now |
sa12982 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa18285
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000025989 | Nonsense | 67 | 514 | 2 | 13 |
Genomic Location (Zv9):
Chromosome 6 (position 1460109)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 870506 |
GRCz11 | 6 | 1724875 |
KASP Assay ID:
2259-6979.1 (used for ordering genotyping assays)
KASP Sequence:
TGGAGAAAAGGACAAGCGRCGACACTGTTTCTCCACCTGGAAGAACCGCT[C/A]GGGRACCATCGAGATGGTSAAGCAGGGCTGCTGGCYGGACGATGTCAACT
Long Flanking Sequence:
TGTTATTTGTATTTCTCTGATTTCCAGTTGTGTTTGATTCCATGTCATTTGTGTACGTCTTTACATAATAAAAAAATTACACTGATATATGAAATAAAATGAAATGACAATGTGCACAGTTCCATGATTTATGATTTACATTGCAGAGAAATATGCTTTTGATAATATGATGACTAGTTTCCCAGTACTGAATGTAGCTGGAAGGGCATCCGCTGTGTAAAGCATATGCTGGAATAGTTGGCAGTTCCTTCTGCTGTGGTGACCCCTGATGAATAAAGGGACTAAGCTGAAGGAAAATGAATGAATTTGGTGATGTAATGATGTTTTGTTAATTAATCTGTGATGTGCTTCAGGTGCGATTCTGGGCCGCTCGGAGACACAGGAGTGTGTGTATTATAATGTGAGCTGGGAGAAGGACGGAACAAACAGGAGCGGCACGGAGTCATGTTATGGAGAAAAGGACAAGCGGCGACACTGTTTCTCCACCTGGAAGAACCGCT[C/A]GGGGACCATCGAGATGGTCAAGCAGGGCTGCTGGCTGGACGATGTCAACTGCTACGACAGGTAAACACACTCACACACACACTTTATGAGTGTGTACATGTTCAGAAGAGGACAGAGGATGAGCTGTGTGTTGTGTGTGCAGCAGTGAGTGTGTGGAGCGCAAAGAGAATATTGATGTCTTCTTCTGCTGCTGCGAGGGAAACTTGTGCAACCAGAAGTTTCACTACAATCCAGAGACGGTTGAGCGTGAGTTCACACACACACACACACACAAACTTCCACAAACACACAACTTCACAGACATACACACACACACACACAAGCACTTAACTTCACAAATGCACACACTCGCATACAGACACAACCAGATACATACACACACACAATTTTACAGACAGATGCATACACACTCACACATGCACACACACGACGCTTCAGAATAAGTACTGAGCACAGAGTAAGAAATGCACTCACACTCGTATGCACGCACAAACATGCAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12982
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000025989 | Nonsense | 352 | 514 | 10 | 13 |
Genomic Location (Zv9):
Chromosome 6 (position 1449257)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 881358 |
GRCz11 | 6 | 1735727 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CGCCTGCATCGCTGACTTTGGCCTGGCGCTCAAGTTTGAAGCAGGAAAAK[C/A]AACAGGTGACACACACGGACAGGTAAATACCACATTTACATCTGCAGAAA
Long Flanking Sequence:
TTATTTACACGAGGACATTCCCAACCTGAAGGATGGACACAAGCCTGCTATAGCACACAGGTAACACCTGAAACGTCATCATCATCCTCGCATTTGACAGACGTTTATAGCATTGATATCTATTATGAACTCTGATGTAATGTATGTATGATGACAAGTTATTCACCCTCCTGTAAAATATATATATATATATATGTGTGTATATATGTGTATATATGTGTGTGTGTATACACAAATATATACACACAAATACATATACACAAATATATAAATATATAAATATATATATATATATATATATATATATATATATATATATACACACACACACACACACACAAATATATATTCTCATTGTTCAGTTTGTTGTTATTTATTATTAATGAATATGTAAATGATCTTCCTCAGAGACATCAAGAGTAAGAATGTGCTGCTGAAGAGTGATCTAACCGCCTGCATCGCTGACTTTGGCCTGGCGCTCAAGTTTGAAGCAGGAAAAT[C/A]AACAGGTGACACACACGGACAGGTAAATACCACATTTACATCTGCAGAAACACAGGAGTGAAGTTCTGTTCAGAGTTTCTGTGATGTATGCAGTCAAAGTACTGTGCATGAATGACACCAGAATTCATCCTATTTAACTTCACCTATTAAAAAGGTTTGAATAAATCATTTTTAGGCGGTTCATTCCGCTGTGGCGACCCCAGATTAATAAACGGACTAAGCCGAAAAGAAAATGAATGAATAAACAAATCACTTTTTATTTTTTATCAATTTTAGTAAAGTTTATTTATAGGCTAATGTCGAAAGGATCACGTGCTAATGATTGCTTGCAATTGGTCCTGCATTATTCAATTCATGATTGACCAATCAGACAATTCCTTAACCACTACAAATACCTTAAGGTCCATATCACAGCATCTTCATTTTGAAGAATCCCCCCTTCCACCCCTACTCCTGCACCTTTTCTAGATGGGTAGCACGGTGGCCCAGTGATTAGCACT
Associated Phenotype:
Not determined