Product Details

SNP ID

rs188289949

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:49295456 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCGACTTCTCCATGGCCGAGGCC[C/T]TCAACCAGGAGTTCCTGGCCACGCG

Phenotype

MIM: 170710

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LOC101927267 PubMed Links

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	444	Missense Mutation	CTC,TTC	L86F	NP_006253.2
XM_005269025.1	444	Missense Mutation	CTC,TTC	L86F	XP_005269082.1

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