Product Details

SNP ID

rs200469248

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:16271023 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTGGAGCCATCCGTATTGAGGCTG[C/T]GTCACTGAGATTGACACTCAGCACT

Phenotype

MIM: 608959

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DPH3 PubMed Links

Gene Details

Gene

DPH3

Gene Name

diphthamide biosynthesis 3

There are no transcripts associated with this gene.

Gene

OXNAD1

Gene Name

oxidoreductase NAD binding domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138381.3	571	Missense Mutation	GCG,GTG	A24V	NP_612390.1
XM_005265559.3	571	Missense Mutation	GCG,GTG	A97V	XP_005265616.1
XM_006713405.1	571	Missense Mutation	GCG,GTG	A42V	XP_006713468.1
XM_006713406.2	571	UTR 5			XP_006713469.1
XM_011534230.2	571	Missense Mutation	GCG,GTG	A97V	XP_011532532.1
XM_011534232.2	571	Missense Mutation	GCG,GTG	A97V	XP_011532534.1
XM_011534233.2	571	Missense Mutation	GCG,GTG	A97V	XP_011532535.1
XM_011534234.2	571	Missense Mutation	GCG,GTG	A97V	XP_011532536.1
XM_011534235.2	571	Missense Mutation	GCG,GTG	A97V	XP_011532537.1
XM_017007485.1	571	Missense Mutation	GCG,GTG	A42V	XP_016862974.1
XM_017007486.1	571	Missense Mutation	GCG,GTG	A24V	XP_016862975.1
XM_017007487.1	571	Missense Mutation	GCG,GTG	A24V	XP_016862976.1
XM_017007488.1	571	Missense Mutation	GCG,GTG	A24V	XP_016862977.1
XM_017007489.1	571	Missense Mutation	GCG,GTG	A24V	XP_016862978.1
XM_017007490.1	571	Missense Mutation	GCG,GTG	A24V	XP_016862979.1
XM_017007491.1	571	Missense Mutation	GCG,GTG	A24V	XP_016862980.1
XM_017007492.1	571	Missense Mutation	GCG,GTG	A24V	XP_016862981.1
XM_017007493.1	571	UTR 5			XP_016862982.1
XM_017007494.1	571	UTR 5			XP_016862983.1
XM_017007495.1	571	UTR 5			XP_016862984.1
XM_017007496.1	571	UTR 5			XP_016862985.1

View Full Product Details