Product Details

SNP ID
rs12907899
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.15:33859318 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CAAGGCTTAAAGATCTTTTAACTTA[C/T]ATACACCTTTAATGGGCCTAAAAAT
Phenotype
MIM: 605265 MIM: 180903
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
AVEN PubMed Links

Gene Details

Gene
AVEN
Gene Name
apoptosis and caspase activation inhibitor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020371.2 Intron NP_065104.1
XM_011521818.2 Intron XP_011520120.1
XM_011521819.2 Intron XP_011520121.1
XM_011521820.1 Intron XP_011520122.1
Gene
RYR3
Gene Name
ryanodine receptor 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001036.4 Intron NP_001027.3
NM_001243996.2 Intron NP_001230925.1
XM_011521880.2 Intron XP_011520182.1
XM_017022468.1 Intron XP_016877957.1
XM_017022469.1 Intron XP_016877958.1
XM_017022470.1 Intron XP_016877959.1
XM_017022471.1 Intron XP_016877960.1
XM_017022472.1 Intron XP_016877961.1
XM_017022473.1 Intron XP_016877962.1
XM_017022474.1 Intron XP_016877963.1
XM_017022475.1 Intron XP_016877964.1
XM_017022476.1 Intron XP_016877965.1
XM_017022477.1 Intron XP_016877966.1

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