Product Details

SNP ID
rs201149176
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:48741797 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCCCCACAGCACTGACCTGTGACG[A/T]GAAAATTGATGATCGTGGCTGGGCT
Phenotype
MIM: 211100 MIM: 609278 MIM: 609623
Polymorphism
A/T, Transversion 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_001321864.1 856 Missense Mutation CAC,CTC H136L NP_001308793.1
NM_001321865.1 856 Missense Mutation CAC,CTC H75L NP_001308794.1
NM_182575.2 856 Missense Mutation CAC,CTC H249L NP_872381.2
XM_005258793.4 856 Missense Mutation CAC,CTC H275L XP_005258850.1
XM_011526811.2 856 Missense Mutation CAC,CTC H255L XP_011525113.1
XM_011526812.2 856 Missense Mutation CAC,CTC H249L XP_011525114.1
XM_011526813.2 856 Missense Mutation CAC,CTC H249L XP_011525115.1
XM_011526815.2 856 Missense Mutation CAC,CTC H136L XP_011525117.1
XM_017026646.1 856 Missense Mutation CAC,CTC H282L XP_016882135.1
Gene
RASIP1
Gene Name
Ras interacting protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_017805.2 856 Intron NP_060275.2
XM_011527053.2 856 Intron XP_011525355.2
XM_011527054.2 856 Intron XP_011525356.2
XM_011527055.2 856 Intron XP_011525357.2
XM_017026914.1 856 Intron XP_016882403.1
XM_017026915.1 856 Intron XP_016882404.1

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