Product Details

SNP ID
rs11859934
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:87608026 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
AAGGGCACCCCTACCCACGTTGGCC[A/G]TGAGGCCGTTTGATGGGCTTTGTGT
Phenotype
MIM: 605268
Polymorphism
A/G, 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_001271604.2 720 Intron NP_001258533.1
NM_001271605.1 720 Intron NP_001258534.1
NM_020655.3 720 Intron NP_065706.2
XM_017023483.1 720 Intron XP_016878972.1
XM_017023484.1 720 Missense Mutation CAT,CGT H145R XP_016878973.1

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