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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