Product Details
- SNP ID
-
rs147850817
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
17
- Location
-
Chr.1:155138217 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCAGGAATCGTCACCAGCTTTATCC[G/T]CTTCTGGCTTTTCTGGAAGTACCCC
- Phenotype
-
MIM: 605951
MIM: 191164
MIM: 613683
- Polymorphism
- G/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
DPM3
PubMed Links
Gene Details
- Gene
- DPM3
- Gene Name
- dolichyl-phosphate mannosyltransferase subunit 3
There are no transcripts associated with this gene.
- Gene
- EFNA1
- Gene Name
- ephrin A1
There are no transcripts associated with this gene.
- Gene
- SLC50A1
- Gene Name
- solute carrier family 50 member 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001122837.1 |
605 |
Missense Mutation |
CGC,CTC |
R146L |
NP_001116309.1 |
| NM_001122839.1 |
605 |
Missense Mutation |
CGC,CTC |
R147L |
NP_001116311.1 |
| NM_001287586.1 |
605 |
Missense Mutation |
CGC,CTC |
R155L |
NP_001274515.1 |
| NM_001287587.1 |
605 |
Missense Mutation |
CGC,CTC |
R194L |
NP_001274516.1 |
| NM_001287588.1 |
605 |
UTR 3 |
|
|
NP_001274517.1 |
| NM_001287589.1 |
605 |
Missense Mutation |
CGC,CTC |
R92L |
NP_001274518.1 |
| NM_001287590.1 |
605 |
Missense Mutation |
CGC,CTC |
R136L |
NP_001274519.1 |
| NM_001287591.1 |
605 |
Missense Mutation |
CGC,CTC |
R163L |
NP_001274520.1 |
| NM_001287592.1 |
605 |
Missense Mutation |
CGC,CTC |
R83L |
NP_001274521.1 |
| NM_018845.3 |
605 |
Missense Mutation |
CGC,CTC |
R201L |
NP_061333.2 |
| XM_005245339.4 |
605 |
Missense Mutation |
CGC,CTC |
R185L |
XP_005245396.1 |
| XM_005245340.3 |
605 |
Missense Mutation |
CGC,CTC |
R184L |
XP_005245397.1 |
| XM_005245341.4 |
605 |
Missense Mutation |
CGC,CTC |
R169L |
XP_005245398.1 |
| XM_005245342.3 |
605 |
Missense Mutation |
CGC,CTC |
R169L |
XP_005245399.1 |
| XM_006711453.2 |
605 |
UTR 3 |
|
|
XP_006711516.1 |
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