Product Details

SNP ID

rs143427105

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:49296522 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATTGAGTTCCTCAAGAAGCTGCAC[A/G]AGGAGGTAAGTGGGCCCGGTATCAG

Phenotype

MIM: 170710

Polymorphism

A/G, 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	885	Missense Mutation	AAG,GAG	K233E	NP_006253.2
XM_005269025.1	885	Missense Mutation	AAG,GAG	K233E	XP_005269082.1

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