Product Details

SNP ID

rs114751507

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:203497050 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCACTACGGCTCCAGGGACACCCT[C/T]GTCAAACCCCACGATGACCAGACCT

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	421	Missense Mutation	TCG,TTG	S102L	NP_055174.1
XM_011509406.2	421	Missense Mutation	TCG,TTG	S102L	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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