Product Details

SNP ID
rs150370229
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:3209556 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGGGTAACCGGGGATCACCATGG[C/T]GGCCTCATTGGTGGGGAAGAAGATC
Phenotype
MIM: 616177 MIM: 147520
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DDRGK1 PubMed Links

Gene Details

Gene
DDRGK1
Gene Name
DDRGK domain containing 1
There are no transcripts associated with this gene.

Gene
ITPA
Gene Name
inosine triphosphatase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001267623.1 480 Missense Mutation GCG,GTG A2V NP_001254552.1
NM_001324236.1 480 UTR 5 NP_001311165.1
NM_001324237.1 480 Intron NP_001311166.1
NM_001324238.1 480 Intron NP_001311167.1
NM_001324240.1 480 Missense Mutation GCG,GTG A2V NP_001311169.1
NM_033453.3 480 Missense Mutation GCG,GTG A2V NP_258412.1
NM_181493.3 480 Missense Mutation GCG,GTG A2V NP_852470.1
XM_006723564.3 480 Missense Mutation GCG,GTG A2V XP_006723627.1
XM_006723565.3 480 Missense Mutation GCG,GTG A2V XP_006723628.1
XM_011529234.2 480 Missense Mutation GCG,GTG A2V XP_011527536.1

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