Product Details

SNP ID

rs200265456

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.9:136800114 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGCTGGAGAGCATGCAGCTGGAGC[C/T]GGACAGCCTGCGGAGCCAGCCCGAC

Phenotype

MIM: 615955 MIM: 610615

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

CCDC183 PubMed Links

Additional Information

For this assay, SNP(s) [rs7859194] 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

CCDC183

Gene Name

coiled-coil domain containing 183

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039374.4	443	Missense Mutation	CCG,CTG	P128L	NP_001034463.4

Gene

CCDC183-AS1

Gene Name

CCDC183 antisense RNA 1

There are no transcripts associated with this gene.

Gene

RABL6

Gene Name

RAB, member RAS oncogene family-like 6

There are no transcripts associated with this gene.

Gene

TMEM141

Gene Name

transmembrane protein 141

There are no transcripts associated with this gene.

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