Product Details

SNP ID
rs75807674
Assay Type
Functionally Tested
NCBI dbSNP Submissions
17
Location
Chr.1:237049125 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCAGGTCCAGTGGGAGGGGACACC[C/T]GGAGAAGGCAATTAGAGAGAGGGAA
Phenotype
MIM: 180902
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
RYR2 PubMed Links

Gene Details

Gene
RYR2
Gene Name
ryanodine receptor 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001035.2 Intron NP_001026.2
XM_006711802.3 Intron XP_006711865.1
XM_006711803.3 Intron XP_006711866.1
XM_006711804.3 Intron XP_006711867.1
XM_006711805.3 Intron XP_006711868.1
XM_006711806.3 Intron XP_006711869.1
XM_006711807.3 Intron XP_006711870.1
XM_006711808.3 Intron XP_006711871.1
XM_006711809.3 Intron XP_006711872.1
XM_006711810.3 Intron XP_006711873.1
XM_017002028.1 Intron XP_016857517.1

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