Product Details

SNP ID
rs192098956
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:40742533 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACGTACACCCGGCCGTCAGTGGCC[C/T]GTGAGGGCGAGAAGTCCGTCAGCTG
Phenotype
MIM: 606476 MIM: 182285
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
C19orf54 PubMed Links

Gene Details

Gene
C19orf54
Gene Name
chromosome 19 open reading frame 54
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_198476.3 979 Missense Mutation CAG,CGG Q319R NP_940878.3
XM_005258776.4 979 UTR 3 XP_005258833.1
XM_005258778.4 979 Missense Mutation CAG,CGG Q147R XP_005258835.1
XM_006723152.2 979 UTR 3 XP_006723215.1
XM_006723153.2 979 UTR 3 XP_006723216.1
XM_011526774.2 979 Missense Mutation CAG,CGG Q319R XP_011525076.1
XM_011526775.1 979 Missense Mutation CAG,CGG Q319R XP_011525077.1
XM_011526776.2 979 Intron XP_011525078.1
XM_011526777.2 979 Missense Mutation CAG,CGG Q319R XP_011525079.1
XM_011526778.2 979 Intron XP_011525080.1
XM_011526779.2 979 Intron XP_011525081.1
XM_011526782.2 979 Intron XP_011525084.1
XM_011526783.2 979 Intron XP_011525085.1
XM_011526784.2 979 Missense Mutation CAG,CGG Q181R XP_011525086.1
XM_011526785.2 979 Missense Mutation CAG,CGG Q147R XP_011525087.1
XM_011526786.2 979 Intron XP_011525088.1
XM_017026620.1 979 Intron XP_016882109.1
XM_017026621.1 979 Missense Mutation CAG,CGG Q319R XP_016882110.1
XM_017026622.1 979 Intron XP_016882111.1
XM_017026623.1 979 Intron XP_016882112.1
XM_017026624.1 979 Missense Mutation CAG,CGG Q181R XP_016882113.1
XM_017026625.1 979 Intron XP_016882114.1
XM_017026626.1 979 Missense Mutation CAG,CGG Q181R XP_016882115.1
XM_017026627.1 979 Missense Mutation CAG,CGG Q147R XP_016882116.1
Gene
ITPKC
Gene Name
inositol-trisphosphate 3-kinase C
There are no transcripts associated with this gene.

Gene
SNRPA
Gene Name
small nuclear ribonucleoprotein polypeptide A
There are no transcripts associated with this gene.

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