Product Details

SNP ID

rs149949619

Assay Type

Functionally tested

NCBI dbSNP Submissions

14

Location

Chr.1:26438244 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATGCCAAGAAGTGCCAGGTGGAGC[A/G]GCAGGAAGGCCACTCACAGGGCTTC

Phenotype

MIM: 608172 MIM: 611043

Polymorphism

A/G, 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	228	Missense Mutation	CAG,CGG	Q47R	NP_001230493.1
NM_001243565.1	228	Missense Mutation	CAG,CGG	Q47R	NP_001230494.1
NM_001319959.1	228	UTR 5			NP_001306888.1
NM_024887.3	228	Missense Mutation	CAG,CGG	Q47R	NP_079163.2
NM_205861.2	228	Missense Mutation	CAG,CGG	Q47R	NP_995583.1
XM_006710912.2	228	Missense Mutation	CAG,CGG	Q47R	XP_006710975.1
XM_006710913.2	228	Missense Mutation	CAG,CGG	Q47R	XP_006710976.1
XM_006710914.2	228	Missense Mutation	CAG,CGG	Q47R	XP_006710977.1
XM_006710915.2	228	Missense Mutation	CAG,CGG	Q47R	XP_006710978.1
XM_006710916.2	228	UTR 5			XP_006710979.1
XM_006710917.2	228	UTR 5			XP_006710980.1
XM_006710918.2	228	UTR 5			XP_006710981.1
XM_011542183.2	228	Missense Mutation	CAG,CGG	Q47R	XP_011540485.1
XM_011542184.2	228	Missense Mutation	CAG,CGG	Q47R	XP_011540486.1
XM_011542185.2	228	Missense Mutation	CAG,CGG	Q47R	XP_011540487.1
XM_011542186.2	228	Missense Mutation	CAG,CGG	Q47R	XP_011540488.1
XM_017002379.1	228	Missense Mutation	CAG,CGG	Q47R	XP_016857868.1
XM_017002380.1	228	Missense Mutation	CAG,CGG	Q47R	XP_016857869.1
XM_017002381.1	228	UTR 5			XP_016857870.1
XM_017002382.1	228	UTR 5			XP_016857871.1
XM_017002383.1	228	UTR 5			XP_016857872.1
XM_017002384.1	228	UTR 5			XP_016857873.1

Gene

LIN28A

Gene Name

lin-28 homolog A

There are no transcripts associated with this gene.

View Full Product Details