Product Details

SNP ID
rs76886675
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:61280525 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGGCTGCCGTTGACCAGCGGCGGG[T/G]TGCGGAACTTGACGTGGTAGTCGGT
Phenotype
MIM: 605437 MIM: 611029
Polymorphism
T/G, Transversion substitution
Allele Nomenclature
Literature Links
PRKCH PubMed Links

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 1288 Intron NP_006246.2
XM_011536954.2 1288 Intron XP_011535256.1
XM_011536955.1 1288 Intron XP_011535257.1
XM_011536956.1 1288 Intron XP_011535258.1
XM_011536957.1 1288 Intron XP_011535259.1
XM_017021458.1 1288 Intron XP_016876947.1
XM_017021459.1 1288 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 1288 Missense Mutation NP_001017970.1

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