Product Details

SNP ID

rs149174447

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:48741379 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGGCGGCTTGCCAGCATTTTCTCG[A/G]GCTGCAGAGGCTGGAGGCTTATGGA

Phenotype

MIM: 211100 MIM: 609278 MIM: 609623

Polymorphism

A/G, 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	964	Missense Mutation	CCC,CTC	P172L	NP_001308793.1
NM_001321865.1	964	Missense Mutation	CCC,CTC	P111L	NP_001308794.1
NM_182575.2	964	Missense Mutation	CCC,CTC	P285L	NP_872381.2
XM_005258793.4	964	Missense Mutation	CCC,CTC	P311L	XP_005258850.1
XM_011526811.2	964	Missense Mutation	CCC,CTC	P291L	XP_011525113.1
XM_011526812.2	964	Missense Mutation	CCC,CTC	P285L	XP_011525114.1
XM_011526813.2	964	Missense Mutation	CCC,CTC	P285L	XP_011525115.1
XM_011526815.2	964	Missense Mutation	CCC,CTC	P172L	XP_011525117.1
XM_017026646.1	964	Missense Mutation	CCC,CTC	P318L	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	964	Intron			NP_060275.2
XM_011527053.2	964	Intron			XP_011525355.2
XM_011527054.2	964	Intron			XP_011525356.2
XM_011527055.2	964	Intron			XP_011525357.2
XM_017026914.1	964	Intron			XP_016882403.1
XM_017026915.1	964	Intron			XP_016882404.1

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