Product Details

SNP ID

rs201610363

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:54446174 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGTGGCTCCTAAAGCAGCCACCG[A/G]TGCCTCCTCCATCTCCCTGTCCTCA

Phenotype

MIM: 300546 MIM: 300945

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FGD1 PubMed Links

Gene Details

Gene

FGD1

Gene Name

FYVE, RhoGEF and PH domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004463.2	3555	Missense Mutation	CCG,TCG	P941S	NP_004454.2

Gene

TSR2

Gene Name

TSR2, ribosome maturation factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_058163.1	3555	Intron			NP_477511.1

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