Product Details

SNP ID

rs904411

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:65170257 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAAGATGGAGCAGTGGAGGACGAG[C/G]AAGGGGAGGGAGAGGACGGTGAGGA

Phenotype

MIM: 607844

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

LEMD3 PubMed Links

Gene Details

Gene

LEMD3

Gene Name

LEM domain containing 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001167614.1	687	Missense Mutation	CAA,GAA	Q221E	NP_001161086.1
NM_014319.4	687	Missense Mutation	CAA,GAA	Q221E	NP_055134.2

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