Product Details

SNP ID

rs78625999

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:38442186 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGTGATGTTGGTCTAGATTCAGTGT[C/G]TCTGAGGGGGATGGCAGAGGGCAGG

Phenotype

MIM: 180901

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

RYR1 PubMed Links

Gene Details

Gene

RYR1

Gene Name

ryanodine receptor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000540.2		Intron			NP_000531.2
NM_001042723.1		Intron			NP_001036188.1
XM_006723317.2		Intron			XP_006723380.1
XM_006723319.2		Intron			XP_006723382.1
XM_011527205.2		Intron			XP_011525507.1

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