Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TTAACTGCATCCCTAATCCCTTGCC[A/G]TCATCAGTTCTCTTTGGTTTCACCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 605265 MIM: 180903 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AVEN PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
AVEN - apoptosis and caspase activation inhibitor | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_020371.2 | 902 | Silent Mutation | GAC,GAT | D,D 221 | NP_065104.1 | |
XM_011521818.2 | 902 | Silent Mutation | GAC,GAT | D,D 156 | XP_011520120.1 | |
XM_011521819.2 | 902 | Silent Mutation | GAC,GAT | D,D 146 | XP_011520121.1 | |
XM_011521820.1 | 902 | Silent Mutation | GAC,GAT | D,D 135 | XP_011520122.1 |
RYR3 - ryanodine receptor 3 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |