Product Details
- SNP ID
-
rs143215737
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.5:180791723 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CGGAACTGGAAGGTGACAATACCCC[A/G]GTAGCCAGCTCTCGGAACCCCCGAC
- Phenotype
-
MIM: 160995
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
MGAT1
PubMed Links
Gene Details
- Gene
- MGAT1
- Gene Name
- mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001114617.1 |
2015 |
Missense Mutation |
CGG,TGG |
R417W |
NP_001108089.1 |
NM_001114618.1 |
2015 |
Missense Mutation |
CGG,TGG |
R417W |
NP_001108090.1 |
NM_001114619.1 |
2015 |
Missense Mutation |
CGG,TGG |
R417W |
NP_001108091.1 |
NM_001114620.1 |
2015 |
Missense Mutation |
CGG,TGG |
R417W |
NP_001108092.1 |
NM_002406.3 |
2015 |
Missense Mutation |
CGG,TGG |
R417W |
NP_002397.2 |
XM_005265915.1 |
2015 |
Missense Mutation |
CGG,TGG |
R417W |
XP_005265972.1 |
XM_005265916.1 |
2015 |
Missense Mutation |
CGG,TGG |
R417W |
XP_005265973.1 |
XM_006714866.1 |
2015 |
Missense Mutation |
CGG,TGG |
R417W |
XP_006714929.1 |
XM_011534559.1 |
2015 |
Missense Mutation |
CGG,TGG |
R417W |
XP_011532861.1 |
XM_011534560.1 |
2015 |
Missense Mutation |
CGG,TGG |
R417W |
XP_011532862.1 |
XM_011534561.1 |
2015 |
Missense Mutation |
CGG,TGG |
R417W |
XP_011532863.1 |
XM_011534562.1 |
2015 |
Missense Mutation |
CGG,TGG |
R417W |
XP_011532864.1 |
XM_011534563.2 |
2015 |
Missense Mutation |
CGG,TGG |
R417W |
XP_011532865.1 |
XM_017009486.1 |
2015 |
Missense Mutation |
CGG,TGG |
R417W |
XP_016864975.1 |
XM_017009487.1 |
2015 |
Missense Mutation |
CGG,TGG |
R417W |
XP_016864976.1 |
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