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.
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