Product Details

SNP ID
rs200299118
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:178436200 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTCCTTGGCAATTTCACTAAGCAG[C/G]TGGATGTAATCTGTATTTGGAATAC
Phenotype
MIM: 603424
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
LOC101927027 PubMed Links

Gene Details

Gene
LOC101927027
Gene Name
uncharacterized LOC101927027
There are no transcripts associated with this gene.

Gene
PRKRA
Gene Name
protein activator of interferon induced protein kinase EIF2AK2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001139517.1 971 Missense Mutation CAC,CAG H232Q NP_001132989.1
NM_001139518.1 971 Missense Mutation CAC,CAG H218Q NP_001132990.1
NM_001316362.1 971 Missense Mutation CAC,CAG H130Q NP_001303291.1
NM_003690.4 971 Missense Mutation CAC,CAG H243Q NP_003681.1
XM_011512063.1 971 Missense Mutation CAC,CAG H158Q XP_011510365.1
XM_011512066.1 971 Missense Mutation CAC,CAG H130Q XP_011510368.1
XM_017005159.1 971 Missense Mutation CAC,CAG H130Q XP_016860648.1

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