Product Details

SNP ID

rs184401

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.16:57472889 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCTGCTGTTCCGGCCCTTGGGCTGT[C/T]TGGGAAAAGCCAGCAGTCAGAGTGC

Phenotype

MIM: 608333 MIM: 180663

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

DOK4 PubMed Links

Additional Information

For this assay, SNP(s) [rs114023919] 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

DOK4

Gene Name

docking protein 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018110.3	1878	UTR 3			NP_060580.2
XM_005256042.3	1878	UTR 3			XP_005256099.1
XM_005256043.2	1878	UTR 3			XP_005256100.1

Gene

POLR2C

Gene Name

RNA polymerase II subunit C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032940.2	1878	Intron			NP_116558.1

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