Product Details

SNP ID

rs180753483

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:194644608 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGTTTTGTCAACGATATTTTCAA[C/T]CTGCTTTGCTTTTTTATTTCTGCCT

Phenotype

MIM: 610780

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LSG1 PubMed Links

Gene Details

Gene

LSG1

Gene Name

large 60S subunit nuclear export GTPase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018385.2	1405	Missense Mutation	ATT,GTT	I588V	NP_060855.2
XM_017006796.1	1405	Missense Mutation	ATT,GTT	I430V	XP_016862285.1

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