Product Details

SNP ID

rs201848636

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:48741911 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTCAGGGTGGCCTCTTTCCCCTTG[C/G]ACACCAAGGTCTCCGTATTGTTCCC

Phenotype

MIM: 211100 MIM: 609278 MIM: 609623

Polymorphism

C/G, 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	742	Missense Mutation	TCC,TGC	S98C	NP_001308793.1
NM_001321865.1	742	Missense Mutation	TCC,TGC	S37C	NP_001308794.1
NM_182575.2	742	Missense Mutation	TCC,TGC	S211C	NP_872381.2
XM_005258793.4	742	Missense Mutation	TCC,TGC	S237C	XP_005258850.1
XM_011526811.2	742	Missense Mutation	TCC,TGC	S217C	XP_011525113.1
XM_011526812.2	742	Missense Mutation	TCC,TGC	S211C	XP_011525114.1
XM_011526813.2	742	Missense Mutation	TCC,TGC	S211C	XP_011525115.1
XM_011526815.2	742	Missense Mutation	TCC,TGC	S98C	XP_011525117.1
XM_017026646.1	742	Missense Mutation	TCC,TGC	S244C	XP_016882135.1

Gene

RASIP1

Gene Name

Ras interacting protein 1

There are no transcripts associated with this gene.

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