Product Details

SNP ID
rs140133186
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:48742306 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCCATTTGAGGAACTTCCACATTC[C/T]GCTCTGGGGGTGGGGGATGACCATG
Phenotype
MIM: 211100 MIM: 609278 MIM: 609623
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
FUT1 PubMed Links

Gene Details

Gene
FUT1
Gene Name
fucosyltransferase 1 (H blood group)
There are no transcripts associated with this gene.

Gene
IZUMO1
Gene Name
izumo sperm-egg fusion 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001321864.1 613 Missense Mutation CAG,CGG Q55R NP_001308793.1
NM_001321865.1 613 UTR 5 NP_001308794.1
NM_182575.2 613 Missense Mutation CAG,CGG Q168R NP_872381.2
XM_005258793.4 613 Missense Mutation CAG,CGG Q194R XP_005258850.1
XM_011526811.2 613 Missense Mutation CAG,CGG Q174R XP_011525113.1
XM_011526812.2 613 Missense Mutation CAG,CGG Q168R XP_011525114.1
XM_011526813.2 613 Missense Mutation CAG,CGG Q168R XP_011525115.1
XM_011526815.2 613 Missense Mutation CAG,CGG Q55R XP_011525117.1
XM_017026646.1 613 Missense Mutation CAG,CGG Q201R XP_016882135.1
Gene
RASIP1
Gene Name
Ras interacting protein 1
There are no transcripts associated with this gene.

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