Product Details

SNP ID

rs2490347

Assay Type

Functionally tested

NCBI dbSNP Submissions

18

Location

Chr.1:237046629 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CACATTGGCAGGAAGGGCAAGATCT[A/G]AAACGCTTAGGGCACTAATTTATTT

Phenotype

MIM: 180902

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

RYR2 PubMed Links

Gene Details

Gene

RYR2

Gene Name

ryanodine receptor 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001035.2		Intron			NP_001026.2
XM_006711802.3		Intron			XP_006711865.1
XM_006711803.3		Intron			XP_006711866.1
XM_006711804.3		Intron			XP_006711867.1
XM_006711805.3		Intron			XP_006711868.1
XM_006711806.3		Intron			XP_006711869.1
XM_006711807.3		Intron			XP_006711870.1
XM_006711808.3		Intron			XP_006711871.1
XM_006711809.3		Intron			XP_006711872.1
XM_006711810.3		Intron			XP_006711873.1
XM_017002028.1		Intron			XP_016857517.1

View Full Product Details