Product Details

SNP ID
rs199734797
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:40742522 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCACGGGCACCACGTACACCCGGC[C/T]GTCAGTGGCCCGTGAGGGCGAGAAG
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_198476.3 990 Missense Mutation AGC,GGC S323G NP_940878.3
XM_005258776.4 990 UTR 3 XP_005258833.1
XM_005258778.4 990 Missense Mutation AGC,GGC S151G XP_005258835.1
XM_006723152.2 990 UTR 3 XP_006723215.1
XM_006723153.2 990 UTR 3 XP_006723216.1
XM_011526774.2 990 Missense Mutation AGC,GGC S323G XP_011525076.1
XM_011526775.1 990 Missense Mutation AGC,GGC S323G XP_011525077.1
XM_011526776.2 990 Intron XP_011525078.1
XM_011526777.2 990 Missense Mutation AGC,GGC S323G XP_011525079.1
XM_011526778.2 990 Intron XP_011525080.1
XM_011526779.2 990 Intron XP_011525081.1
XM_011526782.2 990 Intron XP_011525084.1
XM_011526783.2 990 Intron XP_011525085.1
XM_011526784.2 990 Missense Mutation AGC,GGC S185G XP_011525086.1
XM_011526785.2 990 Missense Mutation AGC,GGC S151G XP_011525087.1
XM_011526786.2 990 Intron XP_011525088.1
XM_017026620.1 990 Intron XP_016882109.1
XM_017026621.1 990 Missense Mutation AGC,GGC S323G XP_016882110.1
XM_017026622.1 990 Intron XP_016882111.1
XM_017026623.1 990 Intron XP_016882112.1
XM_017026624.1 990 Missense Mutation AGC,GGC S185G XP_016882113.1
XM_017026625.1 990 Intron XP_016882114.1
XM_017026626.1 990 Missense Mutation AGC,GGC S185G XP_016882115.1
XM_017026627.1 990 Missense Mutation AGC,GGC S151G 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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