Product Details

SNP ID
rs200171402
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:33772764 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAACTCCACAGCTCGGTCCCAGACA[C/T]GCTTCATGCGCCTCCTGCAATGAGA
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_001143944.1 808 Missense Mutation CAT,CGT H157R NP_001137416.1
NM_181336.3 808 Missense Mutation CAT,CGT H459R NP_851853.1
XM_017010437.1 808 Intron XP_016865926.1

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