Product Details

SNP ID

rs116707685

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:74235367 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATTGGTCACACCCAGGATTTTCAA[A/C]ATATTGTGCTTCTGTAAGAAACATC

Phenotype

MIM: 605266

Polymorphism

A/C, Transversion 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	3464	UTR 3			NP_001304759.1
NM_020647.3	3464	UTR 3			NP_065698.1
XM_005251274.3	3464	UTR 3			XP_005251331.1
XM_005251275.4	3464	UTR 3			XP_005251332.1

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