Product Details

SNP ID
rs3780011
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:74234933 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
AACCCATTAGAAAGAGCCTTCATGT[A/G]AAATACAGCTGTGCACATTTTAGAA
Phenotype
MIM: 605266
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
JPH1 PubMed Links

Gene Details

Gene
JPH1
Gene Name
junctophilin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317830.1 3898 UTR 3 NP_001304759.1
NM_020647.3 3898 UTR 3 NP_065698.1
XM_005251274.3 3898 UTR 3 XP_005251331.1
XM_005251275.4 3898 UTR 3 XP_005251332.1

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