Product Details

SNP ID

rs148606976

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:26442737 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGCCTTCTCCCCTCTCAGACTCTG[C/T]GGTGGTGTTTGAACCTGGGCATCCT

Phenotype

MIM: 608172

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DHDDS PubMed Links

Gene Details

Gene

DHDDS

Gene Name

dehydrodolichyl diphosphate synthase subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001243564.1	275	Missense Mutation	CGG,TGG	R63W	NP_001230493.1
NM_001243565.1	275	Missense Mutation	CGG,TGG	R63W	NP_001230494.1
NM_001319959.1	275	UTR 5			NP_001306888.1
NM_024887.3	275	Missense Mutation	CGG,TGG	R63W	NP_079163.2
NM_205861.2	275	Missense Mutation	CGG,TGG	R63W	NP_995583.1
XM_006710912.2	275	Missense Mutation	CGG,TGG	R63W	XP_006710975.1
XM_006710913.2	275	Missense Mutation	CGG,TGG	R63W	XP_006710976.1
XM_006710914.2	275	Missense Mutation	CGG,TGG	R63W	XP_006710977.1
XM_006710915.2	275	Missense Mutation	CGG,TGG	R63W	XP_006710978.1
XM_006710916.2	275	UTR 5			XP_006710979.1
XM_006710917.2	275	UTR 5			XP_006710980.1
XM_006710918.2	275	UTR 5			XP_006710981.1
XM_011542183.2	275	Missense Mutation	CGG,TGG	R63W	XP_011540485.1
XM_011542184.2	275	Missense Mutation	CGG,TGG	R63W	XP_011540486.1
XM_011542185.2	275	Missense Mutation	CGG,TGG	R63W	XP_011540487.1
XM_011542186.2	275	Missense Mutation	CGG,TGG	R63W	XP_011540488.1
XM_017002379.1	275	Missense Mutation	CGG,TGG	R63W	XP_016857868.1
XM_017002380.1	275	Missense Mutation	CGG,TGG	R63W	XP_016857869.1
XM_017002381.1	275	UTR 5			XP_016857870.1
XM_017002382.1	275	UTR 5			XP_016857871.1
XM_017002383.1	275	UTR 5			XP_016857872.1
XM_017002384.1	275	UTR 5			XP_016857873.1

View Full Product Details