Product Details

SNP ID
rs142574480
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.20:3213226 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACTTTGGTGGCACAGAAAATTGAC[C/T]GTATGTCTCTGTTTTGTTTTATTTT
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_001267623.1 316 Intron NP_001254552.1
NM_001324236.1 316 Intron NP_001311165.1
NM_001324237.1 316 UTR 5 NP_001311166.1
NM_001324238.1 316 Intron NP_001311167.1
NM_001324240.1 316 Silent Mutation CTG,TTG L42L NP_001311169.1
NM_033453.3 316 Silent Mutation CTG,TTG L42L NP_258412.1
NM_181493.3 316 Silent Mutation CTG,TTG L25L NP_852470.1
XM_006723564.3 316 Silent Mutation CTG,TTG L42L XP_006723627.1
XM_006723565.3 316 Intron XP_006723628.1
XM_011529234.2 316 Silent Mutation CTG,TTG L42L XP_011527536.1

View Full Product Details