Product Details

SNP ID

rs146693904

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:26442862 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCCCGGCAGAAGTTCAGCCGCTT[A/G]ATGGAAGAAAAGTAAGATGCTATCA

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	400	Silent Mutation	TTA,TTG	L104L	NP_001230493.1
NM_001243565.1	400	Silent Mutation	TTA,TTG	L104L	NP_001230494.1
NM_001319959.1	400	Silent Mutation	TTA,TTG	L11L	NP_001306888.1
NM_024887.3	400	Silent Mutation	TTA,TTG	L104L	NP_079163.2
NM_205861.2	400	Silent Mutation	TTA,TTG	L104L	NP_995583.1
XM_006710912.2	400	Silent Mutation	TTA,TTG	L104L	XP_006710975.1
XM_006710913.2	400	Silent Mutation	TTA,TTG	L104L	XP_006710976.1
XM_006710914.2	400	Silent Mutation	TTA,TTG	L104L	XP_006710977.1
XM_006710915.2	400	Silent Mutation	TTA,TTG	L104L	XP_006710978.1
XM_006710916.2	400	Silent Mutation	TTA,TTG	L11L	XP_006710979.1
XM_006710917.2	400	Silent Mutation	TTA,TTG	L11L	XP_006710980.1
XM_006710918.2	400	Silent Mutation	TTA,TTG	L11L	XP_006710981.1
XM_011542183.2	400	Silent Mutation	TTA,TTG	L104L	XP_011540485.1
XM_011542184.2	400	Silent Mutation	TTA,TTG	L104L	XP_011540486.1
XM_011542185.2	400	Silent Mutation	TTA,TTG	L104L	XP_011540487.1
XM_011542186.2	400	Silent Mutation	TTA,TTG	L104L	XP_011540488.1
XM_017002379.1	400	Silent Mutation	TTA,TTG	L104L	XP_016857868.1
XM_017002380.1	400	Silent Mutation	TTA,TTG	L104L	XP_016857869.1
XM_017002381.1	400	Silent Mutation	TTA,TTG	L11L	XP_016857870.1
XM_017002382.1	400	Silent Mutation	TTA,TTG	L11L	XP_016857871.1
XM_017002383.1	400	Silent Mutation	TTA,TTG	L11L	XP_016857872.1
XM_017002384.1	400	Silent Mutation	TTA,TTG	L11L	XP_016857873.1

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