Product Details

SNP ID
rs115413384
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:4192255 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGAGCCCGAGGCTACCCAGGAGGCC[C/T]GGAAGCTCCTGAGTGATGGCCCGCT
Phenotype
MIM: 604992
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
SRL PubMed Links

Gene Details

Gene
SRL
Gene Name
sarcalumenin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001098814.1 1379 Silent Mutation NP_001092284.1
NM_001323667.1 1379 Silent Mutation NP_001310596.1
NM_001323668.1 1379 Silent Mutation NP_001310597.1
XM_017023527.1 1379 Silent Mutation XP_016879016.1
XM_017023528.1 1379 Silent Mutation XP_016879017.1
XM_017023529.1 1379 Silent Mutation XP_016879018.1

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