Product Details

SNP ID

rs8362

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:3213332 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TTCCCTGATAAGTGCCGGAGTACCA[A/G]GGGGAGCCGGATGAGATTTCCATAC

Phenotype

MIM: 616177 MIM: 147520

Polymorphism

A/G, 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	330	Intron			NP_001254552.1
NM_001324236.1	330	UTR 5			NP_001311165.1
NM_001324237.1	330	UTR 5			NP_001311166.1
NM_001324238.1	330	UTR 5			NP_001311167.1
NM_001324240.1	330	Silent Mutation	CAA,CAG	Q46Q	NP_001311169.1
NM_033453.3	330	Silent Mutation	CAA,CAG	Q46Q	NP_258412.1
NM_181493.3	330	Silent Mutation	CAA,CAG	Q29Q	NP_852470.1
XM_006723564.3	330	Silent Mutation	CAA,CAG	Q46Q	XP_006723627.1
XM_006723565.3	330	Intron			XP_006723628.1
XM_011529234.2	330	Silent Mutation	CAA,CAG	Q46Q	XP_011527536.1

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