Product Details

SNP ID

rs113862234

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.19:868031 on Build GRCh38

Set Membership

Validated

Context Sequence [VIC/FAM]

GCTTGTCCAGGTTCAGCGCTCTCCG[C/T]GGGTGAGGCAAGGAAACCGAGGAGA

Phenotype

MIM: 134350 MIM: 604062

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

CFD PubMed Links

Additional Information

For this assay, SNP(s) [rs117801197] 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

CFD

Gene Name

complement factor D

There are no transcripts associated with this gene.

Gene

MED16

Gene Name

mediator complex subunit 16

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005481.2	2855	UTR 3			NP_005472.2
XM_017026120.1	2855	UTR 3			XP_016881609.1
XM_017026121.1	2855	UTR 3			XP_016881610.1

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