Product Details

SNP ID

rs113384495

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:42698143 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTGTGTGTCAAATGCTTTTAGGGA[C/T]CCTAAACTTAAATTCCACCGTCAGG

Phenotype

MIM: 179605 MIM: 609134

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PRPH2 PubMed Links

Gene Details

Gene

PRPH2

Gene Name

peripherin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000322.4	1479	UTR 3			NP_000313.2

Gene

UBR2

Gene Name

ubiquitin protein ligase E3 component n-recognin 2

There are no transcripts associated with this gene.

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