Product Details

SNP ID

rs6130531

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:44113049 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGGTCTCAACACCCACCCCACCCA[A/G]CTTCCCTGGGAGGCCTCAGCCCACA

Phenotype

MIM: 605267

Polymorphism

A/G, 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	3433	UTR 3			NP_065166.2
NM_175913.3	3433	Intron			NP_787109.2
XM_006723833.3	3433	Intron			XP_006723896.1

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