Product Details
- SNP ID
-
rs143820544
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.19:48713735 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TCCTACCATCAGGCTCCACCTGATC[C/G]TCCAGGATGTCATCGATGCCCCGGT
- Phenotype
-
MIM: 182100
MIM: 610349
MIM: 609623
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
FUT2
PubMed Links
Gene Details
- Gene
- FUT2
- Gene Name
- fucosyltransferase 2
There are no transcripts associated with this gene.
- Gene
- LOC105447645
- Gene Name
- uncharacterized LOC105447645
There are no transcripts associated with this gene.
- Gene
- MAMSTR
- Gene Name
- MEF2 activating motif and SAP domain containing transcriptional regulator
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001130915.1 |
1775 |
Missense Mutation |
GAC,GAG |
D315E |
NP_001124387.1 |
| NM_001297753.1 |
1775 |
Missense Mutation |
GAC,GAG |
D147E |
NP_001284682.1 |
| NM_182574.2 |
1775 |
Missense Mutation |
GAC,GAG |
D212E |
NP_872380.1 |
| XM_011526807.2 |
1775 |
Missense Mutation |
GAC,GAG |
D212E |
XP_011525109.1 |
| XM_011526808.2 |
1775 |
Missense Mutation |
GAC,GAG |
D378E |
XP_011525110.1 |
| XM_011526809.2 |
1775 |
Missense Mutation |
GAC,GAG |
D147E |
XP_011525111.1 |
| XM_017026640.1 |
1775 |
Missense Mutation |
GAC,GAG |
D396E |
XP_016882129.1 |
| XM_017026641.1 |
1775 |
Missense Mutation |
GAC,GAG |
D383E |
XP_016882130.1 |
| XM_017026642.1 |
1775 |
Intron |
|
|
XP_016882131.1 |
| XM_017026643.1 |
1775 |
Missense Mutation |
GAC,GAG |
D343E |
XP_016882132.1 |
| XM_017026644.1 |
1775 |
Missense Mutation |
GAC,GAG |
D333E |
XP_016882133.1 |
| XM_017026645.1 |
1775 |
Missense Mutation |
GAC,GAG |
D147E |
XP_016882134.1 |
- Gene
- RASIP1
- Gene Name
- Ras interacting protein 1
There are no transcripts associated with this gene.
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