Product Details

SNP ID

rs4237013

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:74240601 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GTTCCACCTGTACTACTACACACTT[A/G]GATTAGATTTTGTTCATGAGTGTTT

Phenotype

MIM: 605266

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

JPH1 PubMed Links

Gene Details

Gene

JPH1

Gene Name

junctophilin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317830.1		Intron			NP_001304759.1
NM_020647.3		Intron			NP_065698.1
XM_005251274.3		Intron			XP_005251331.1
XM_005251275.4		Intron			XP_005251332.1

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