Product Details

SNP ID

rs59827092

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.12:49297468 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGAGGAGGAGCTGCGACAGCTAAAA[A/G]AGGAGATGGCGCGGCACCTGAGGGA

Phenotype

MIM: 170710

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

LOC101927267 PubMed Links

Additional Information

For this assay, SNP(s) [rs73112143] 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

LOC101927267

Gene Name

uncharacterized LOC101927267

There are no transcripts associated with this gene.

Gene

PRPH

Gene Name

peripherin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006262.3	1296	Missense Mutation	AAG,GAG	K370E	NP_006253.2
XM_005269025.1	1296	Missense Mutation	AAG,GAG	K370E	XP_005269082.1

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