Product Details

SNP ID

rs113314776

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:203496138 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAAGGCGATTCCTTTGAAGTTCTG[C/T]CTCTGCGGAATGATGTCCTGAACCC

Phenotype

MIM: 605127 MIM: 601914

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

OPTC PubMed Links

Gene Details

Gene

OPTC

Gene Name

opticin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014359.3	249	Missense Mutation	CCT,TCT	P45S	NP_055174.1
XM_011509406.2	249	Missense Mutation	CCT,TCT	P45S	XP_011507708.1

Gene

PRELP

Gene Name

proline and arginine rich end leucine rich repeat protein

There are no transcripts associated with this gene.

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