Product Details

SNP ID

rs200714230

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:5183602 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAAGGTTTGAGCTTCCCTTAAAAG[C/T]CTTCCCACACTCTTTGCACTCATAG

Phenotype

MIM: 604334

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

LOC100130950 PubMed Links

Additional Information

For this assay, SNP(s) [rs3853648] 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

LOC100130950

Gene Name

uncharacterized LOC100130950

There are no transcripts associated with this gene.

Gene

USP6

Gene Name

ubiquitin specific peptidase 6

There are no transcripts associated with this gene.

Gene

ZNF594

Gene Name

zinc finger protein 594

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032530.1	1124	Missense Mutation	ACT,GCT	T219A	NP_115919.1
XM_005256827.2	1124	Missense Mutation	ACT,GCT	T219A	XP_005256884.1

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