Product Details

SNP ID

rs1800033

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.11:2164325 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCACGGCCTGGGGGCTGTCCAGCA[C/T]GTCGATGGCCAGCGTGTACGGGTCG

Phenotype

MIM: 176730 MIM: 191290

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

INS PubMed Links

Additional Information

For this assay, SNP(s) [rs3842724] 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

INS

Gene Name

insulin

There are no transcripts associated with this gene.

Gene

INS-IGF2

Gene Name

INS-IGF2 readthrough

There are no transcripts associated with this gene.

Gene

MIR4686

Gene Name

microRNA 4686

There are no transcripts associated with this gene.

Gene

TH

Gene Name

tyrosine hydroxylase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000360.3	3709	Missense Mutation	ATG,GTG	M468V	NP_000351.2
NM_199292.2	3709	Missense Mutation	ATG,GTG	M499V	NP_954986.2
NM_199293.2	3709	Missense Mutation	ATG,GTG	M495V	NP_954987.2
XM_011520335.2	3709	Missense Mutation	ATG,GTG	M472V	XP_011518637.1

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