Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGTACTTGGTTGCTCAGGTTCCATG[A/T]TTTTTTCTTCAGTCACAGATGGTTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605265 MIM: 180903 | ||||||||||||||||||||
Literature Links: |
AVEN PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
AVEN - apoptosis and caspase activation inhibitor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_020371.2 | 1246 | Missense Mutation | AAC,ATC | N,I 336 | NP_065104.1 | |
XM_011521818.2 | 1246 | Missense Mutation | AAC,ATC | N,I 271 | XP_011520120.1 | |
XM_011521819.2 | 1246 | Missense Mutation | AAC,ATC | N,I 261 | XP_011520121.1 | |
XM_011521820.1 | 1246 | Missense Mutation | AAC,ATC | N,I 250 | XP_011520122.1 |
RYR3 - ryanodine receptor 3 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001036.4 | 1246 | Intron | NP_001027.3 | |||
NM_001243996.2 | 1246 | Intron | NP_001230925.1 | |||
XM_011521880.2 | 1246 | Intron | XP_011520182.1 | |||
XM_017022468.1 | 1246 | Intron | XP_016877957.1 | |||
XM_017022469.1 | 1246 | Intron | XP_016877958.1 | |||
XM_017022470.1 | 1246 | Intron | XP_016877959.1 | |||
XM_017022471.1 | 1246 | Intron | XP_016877960.1 | |||
XM_017022472.1 | 1246 | Intron | XP_016877961.1 | |||
XM_017022473.1 | 1246 | Intron | XP_016877962.1 | |||
XM_017022474.1 | 1246 | Intron | XP_016877963.1 | |||
XM_017022475.1 | 1246 | Intron | XP_016877964.1 | |||
XM_017022476.1 | 1246 | Intron | XP_016877965.1 | |||
XM_017022477.1 | 1246 | Intron | XP_016877966.1 |