Product Details

SNP ID

rs140565871

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:26446359 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGGTGTGTATCCGGGTCCTGGGC[A/G]ATCTGCACTTGTTGCCCTTGGATCT

Phenotype

MIM: 608172

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	455	Missense Mutation	AAT,GAT	N123D	NP_001230493.1
NM_001243565.1	455	Intron			NP_001230494.1
NM_001319959.1	455	Missense Mutation	AAT,GAT	N30D	NP_001306888.1
NM_024887.3	455	Missense Mutation	AAT,GAT	N123D	NP_079163.2
NM_205861.2	455	Missense Mutation	AAT,GAT	N123D	NP_995583.1
XM_006710912.2	455	Missense Mutation	AAT,GAT	N123D	XP_006710975.1
XM_006710913.2	455	Missense Mutation	AAT,GAT	N123D	XP_006710976.1
XM_006710914.2	455	Missense Mutation	AAT,GAT	N123D	XP_006710977.1
XM_006710915.2	455	Missense Mutation	AAT,GAT	N123D	XP_006710978.1
XM_006710916.2	455	Missense Mutation	AAT,GAT	N30D	XP_006710979.1
XM_006710917.2	455	Missense Mutation	AAT,GAT	N30D	XP_006710980.1
XM_006710918.2	455	Missense Mutation	AAT,GAT	N30D	XP_006710981.1
XM_011542183.2	455	Missense Mutation	AAT,GAT	N123D	XP_011540485.1
XM_011542184.2	455	Missense Mutation	AAT,GAT	N123D	XP_011540486.1
XM_011542185.2	455	Missense Mutation	AAT,GAT	N123D	XP_011540487.1
XM_011542186.2	455	Missense Mutation	AAT,GAT	N123D	XP_011540488.1
XM_017002379.1	455	Missense Mutation	AAT,GAT	N123D	XP_016857868.1
XM_017002380.1	455	Missense Mutation	AAT,GAT	N123D	XP_016857869.1
XM_017002381.1	455	Missense Mutation	AAT,GAT	N30D	XP_016857870.1
XM_017002382.1	455	Missense Mutation	AAT,GAT	N30D	XP_016857871.1
XM_017002383.1	455	Missense Mutation	AAT,GAT	N30D	XP_016857872.1
XM_017002384.1	455	Missense Mutation	AAT,GAT	N30D	XP_016857873.1

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