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SNP ID

rs202213679

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:54449194 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCGTTTGGTGATAGAATTGAAGGG[C/T]TCCTGGCAGCGCATGCACATGGTGA

Phenotype

MIM: 300546 MIM: 300945

Polymorphism

C/T, 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	2957	Silent Mutation	GAA,GAG	E741E	NP_004454.2

Gene

TSR2

Gene Name

TSR2, ribosome maturation factor

There are no transcripts associated with this gene.

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