Product Details

SNP ID

rs183823142

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:49295666 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGCGCGAGCTGCGGCGAGAGCTG[C/G]AGCTGTTGGGCCGCGAGCGTGACCG

Phenotype

MIM: 170710

Polymorphism

C/G, Transversion 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	654	Missense Mutation	CAG,GAG	Q156E	NP_006253.2
XM_005269025.1	654	Missense Mutation	CAG,GAG	Q156E	XP_005269082.1

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