Product Details

SNP ID
rs200715575
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:87603455 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACGGGGTGCGGGAGTGCGCGGGCAA[C/T]GGGGCCAAATACGAAGGGACCTGGA
Phenotype
MIM: 605268
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
JPH3 PubMed Links

Gene Details

Gene
JPH3
Gene Name
junctophilin 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271604.2 595 Silent Mutation AAC,AAT N103N NP_001258533.1
NM_001271605.1 595 Silent Mutation AAC,AAT N103N NP_001258534.1
NM_020655.3 595 Silent Mutation AAC,AAT N103N NP_065706.2
XM_017023483.1 595 Silent Mutation AAC,AAT N103N XP_016878972.1
XM_017023484.1 595 Silent Mutation AAC,AAT N103N XP_016878973.1

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