Product Details

SNP ID

rs200951223

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:44197415 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACTGGCTTTGAGACTTGCTTGGGG[A/G]ACTTGGGTAGCGTCAGAGGAGTCTT

Phenotype

MIM: 605267

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

JPH2 PubMed Links

Gene Details

Gene

JPH2

Gene Name

junctophilin 2

There are no transcripts associated with this gene.

Gene

OSER1

Gene Name

oxidative stress responsive serine rich 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016470.7	812	Silent Mutation	GTC,GTT	V172V	NP_057554.4
XM_011528851.1	812	Silent Mutation	GTC,GTT	V172V	XP_011527153.1
XM_011528853.2	812	Silent Mutation	GTC,GTT	V172V	XP_011527155.1
XM_011528854.2	812	Silent Mutation	GTC,GTT	V134V	XP_011527156.1
XM_017027873.1	812	Silent Mutation	GTC,GTT	V172V	XP_016883362.1

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