Product Details

SNP ID

rs201150293

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.11:126211505 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGGCTCGGAGCTTCTCCGCTAAT[C/T]TCTGGGCATTTATGGCCGTAGAGGC

Phenotype

MIM: 616587

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

FAM118B PubMed Links

Additional Information

For this assay, SNP(s) [rs2282580] 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

FAM118B

Gene Name

family with sequence similarity 118 member B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024556.3	92	Intron			NP_078832.1
XM_005271665.3	92	UTR 5			XP_005271722.1
XM_011542977.2	92	Intron			XP_011541279.1
XM_011542978.2	92	UTR 5			XP_011541280.1
XM_017018285.1	92	Intron			XP_016873774.1
XM_017018286.1	92	UTR 5			XP_016873775.1

Gene

RPUSD4

Gene Name

RNA pseudouridylate synthase domain containing 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001144827.1	92	Missense Mutation	AAA,AGA	K45R	NP_001138299.1
NM_032795.2	92	Missense Mutation	AAA,AGA	K45R	NP_116184.2
XM_011543039.2	92	UTR 5			XP_011541341.1

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