Product Details
- SNP ID
-
rs201948492
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.3:161085978 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CATCTTCAAACTTGATGGGTTTTAC[A/G]TGACCCATCATTTCATAGATCCTTG
- Phenotype
-
MIM: 603094
MIM: 611931
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
B3GALNT1
PubMed Links
Gene Details
- Gene
- B3GALNT1
- Gene Name
- beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001038628.1 |
1405 |
Silent Mutation |
CAC,CAT |
H259H |
NP_001033717.1 |
NM_003781.3 |
1405 |
Silent Mutation |
CAC,CAT |
H259H |
NP_003772.1 |
NM_033167.2 |
1405 |
Silent Mutation |
CAC,CAT |
H259H |
NP_149357.1 |
NM_033168.2 |
1405 |
Silent Mutation |
CAC,CAT |
H259H |
NP_149358.1 |
NM_033169.2 |
1405 |
Silent Mutation |
CAC,CAT |
H259H |
NP_149359.1 |
XM_005247859.4 |
1405 |
Silent Mutation |
CAC,CAT |
H259H |
XP_005247916.1 |
XM_005247861.3 |
1405 |
Silent Mutation |
CAC,CAT |
H259H |
XP_005247918.1 |
XM_005247862.3 |
1405 |
Silent Mutation |
CAC,CAT |
H259H |
XP_005247919.1 |
XM_005247864.3 |
1405 |
Silent Mutation |
CAC,CAT |
H259H |
XP_005247921.1 |
XM_006713803.3 |
1405 |
Silent Mutation |
CAC,CAT |
H259H |
XP_006713866.1 |
XM_006713804.3 |
1405 |
Silent Mutation |
CAC,CAT |
H259H |
XP_006713867.1 |
XM_006713805.3 |
1405 |
Silent Mutation |
CAC,CAT |
H259H |
XP_006713868.1 |
XM_017007402.1 |
1405 |
Silent Mutation |
CAC,CAT |
H379H |
XP_016862891.1 |
XM_017007403.1 |
1405 |
Silent Mutation |
CAC,CAT |
H379H |
XP_016862892.1 |
XM_017007404.1 |
1405 |
Silent Mutation |
CAC,CAT |
H379H |
XP_016862893.1 |
XM_017007405.1 |
1405 |
Silent Mutation |
CAC,CAT |
H259H |
XP_016862894.1 |
XM_017007406.1 |
1405 |
Silent Mutation |
CAC,CAT |
H259H |
XP_016862895.1 |
XM_017007407.1 |
1405 |
Silent Mutation |
CAC,CAT |
H259H |
XP_016862896.1 |
XM_017007408.1 |
1405 |
Silent Mutation |
CAC,CAT |
H259H |
XP_016862897.1 |
XM_017007409.1 |
1405 |
Silent Mutation |
CAC,CAT |
H259H |
XP_016862898.1 |
XM_017007410.1 |
1405 |
Silent Mutation |
CAC,CAT |
H259H |
XP_016862899.1 |
XM_017007411.1 |
1405 |
UTR 3 |
|
|
XP_016862900.1 |
XM_017007412.1 |
1405 |
UTR 3 |
|
|
XP_016862901.1 |
XM_017007413.1 |
1405 |
Intron |
|
|
XP_016862902.1 |
- Gene
- PPM1L
- Gene Name
- protein phosphatase, Mg2+/Mn2+ dependent 1L
There are no transcripts associated with this gene.
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