Product Details

SNP ID

rs112418428

Assay Type

Functionally Tested

NCBI dbSNP Submissions

11

Location

Chr.1:241631596 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTGTCTAGTCTCATTTTCCTCACA[C/T]ATAGAGGAGCAAAAATTAGTGTATT

Phenotype

MIM: 118825 MIM: 606695

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

CHML PubMed Links

Additional Information

For this assay, SNP(s) [rs145080786] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

CHML

Gene Name

CHM like, Rab escort protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001821.3	4335	UTR 3			NP_001812.2

Gene

OPN3

Gene Name

opsin 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014322.2	4335	Intron			NP_055137.2

View Full Product Details