Product Details

SNP ID

rs2000075

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.14:61282701 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ATCAAATTGCATTCTACAAGTCACA[C/T]TAAAATTAAAAAGTAATATTGATTT

Phenotype

MIM: 605437 MIM: 611029

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

PRKCH PubMed Links

Additional Information

For this assay, SNP(s) [rs74412885] 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

PRKCH

Gene Name

protein kinase C eta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006255.4		Intron			NP_006246.2
XM_011536954.2		Intron			XP_011535256.1
XM_011536955.1		Intron			XP_011535257.1
XM_011536956.1		Intron			XP_011535258.1
XM_011536957.1		Intron			XP_011535259.1
XM_017021458.1		Intron			XP_016876947.1
XM_017021459.1		Intron			XP_016876948.1

Gene

TMEM30B

Gene Name

transmembrane protein 30B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001017970.2		Intron			NP_001017970.1

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