Product Details

SNP ID

rs187218889

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.3:150972700 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCAAAAAATGATTTTCTTCTGTTG[G/T]CTTGGCATGATGAGAAACGGCTTCT

Phenotype

MIM: 606397

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

CLRN1 PubMed Links

Additional Information

For this assay, SNP(s) [rs111033422] are located under a probe 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

CLRN1

Gene Name

clarin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001195794.1	300	Missense Mutation	AGA,AGC	R3S	NP_001182723.1
NM_001256819.1	300	Missense Mutation	AGA,AGC	R3S	NP_001243748.1
NM_052995.2	300	Intron			NP_443721.1
NM_174878.2	300	Missense Mutation	AGA,AGC	R3S	NP_777367.1

Gene

CLRN1-AS1

Gene Name

CLRN1 antisense RNA 1

There are no transcripts associated with this gene.

View Full Product Details