Product Details

SNP ID

rs1055727

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:44111911 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGCAGTGGCCCCGCCCCATTCCCC[C/T]CATGCTCCAGGAGTCTTGAGAAGCT

Phenotype

MIM: 605267

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

JPH2 PubMed Links

Gene Details

Gene

JPH2

Gene Name

junctophilin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020433.4	4571	UTR 3			NP_065166.2
NM_175913.3	4571	Intron			NP_787109.2
XM_006723833.3	4571	Intron			XP_006723896.1

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