Product Details

SNP ID

rs199653033

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.12:120303578 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTCTAGAATGAAGATGAGCTTTG[C/T]GTTGACTTTCAGGTCAGCAAAAGGC

Phenotype

MIM: 604482

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

SIRT4 PubMed Links

Additional Information

For this assay, SNP(s) [rs61748115] 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

SIRT4

Gene Name

sirtuin 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012240.2	258	Missense Mutation	GCG,GTG	A6V	NP_036372.1
XM_005253865.4	258	Missense Mutation	GCG,GTG	A6V	XP_005253922.1
XM_006719308.2	258	Missense Mutation	GCG,GTG	A6V	XP_006719371.1
XM_006719309.3	258	Missense Mutation	GCG,GTG	A6V	XP_006719372.1

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