Product Details

SNP ID

rs147300954

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:33772773 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTCGGTCCCAGACACGCTTCATG[C/T]GCCTCCTGCAATGAGAGGGACGGGG

Phenotype

MIM: 616312

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LEMD2 PubMed Links

Gene Details

Gene

LEMD2

Gene Name

LEM domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001143944.1	799	Missense Mutation			NP_001137416.1
NM_181336.3	799	Missense Mutation			NP_851853.1
XM_017010437.1	799	Intron			XP_016865926.1

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