Product Details

SNP ID

rs28470781

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.16:87605552 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGAAGAAAGGATCTGATTCTGTGG[C/T]TGGCCGTGTAGTTTAGGATCTGACG

Phenotype

MIM: 605268

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

JPH3 PubMed Links

Additional Information

For this assay, SNP(s) [rs79464812] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

JPH3

Gene Name

junctophilin 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001271604.2		Intron			NP_001258533.1
NM_001271605.1		Intron			NP_001258534.1
NM_020655.3		Intron			NP_065706.2
XM_017023483.1		Intron			XP_016878972.1
XM_017023484.1		Intron			XP_016878973.1

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