Product Details

SNP ID

rs200984268

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.4:153712556 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTTTTCCCAACGATACACCAACCT[C/T]GGATGCAGAATTCATGAAAGCTGAA

Phenotype

MIM: 603028

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

RNF175 PubMed Links

Additional Information

For this assay, SNP(s) [rs2289318] 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

RNF175

Gene Name

ring finger protein 175

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_173662.2	1242	Missense Mutation	CAA,CGA	Q262R	NP_775933.1
XM_005262938.3	1242	Intron			XP_005262995.1
XM_005262939.3	1242	Missense Mutation	CAA,CGA	Q182R	XP_005262996.1
XM_005262940.4	1242	Missense Mutation	CAA,CGA	Q181R	XP_005262997.1
XM_011531879.2	1242	Missense Mutation	CAA,CGA	Q230R	XP_011530181.1
XM_011531881.2	1242	Missense Mutation	CAA,CGA	Q222R	XP_011530183.1
XM_011531882.2	1242	Intron			XP_011530184.1
XM_011531883.2	1242	Missense Mutation	CAA,CGA	Q190R	XP_011530185.1
XM_017008047.1	1242	Missense Mutation	CAA,CGA	Q163R	XP_016863536.1

Gene

TLR2

Gene Name

toll like receptor 2

There are no transcripts associated with this gene.

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