Product Details

SNP ID
rs188340615
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:205381726 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCACAATGATGAAAATACCAAGCA[C/T]AGCAAGCTTCAAGCCCACTGGGAAA
Phenotype
MIM: 610480
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
LEMD1 PubMed Links

Gene Details

Gene
LEMD1
Gene Name
LEM domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001001552.4 768 UTR 3 NP_001001552.3
NM_001199050.1 768 Missense Mutation ATG,GTG M160V NP_001185979.1
NM_001199051.1 768 Missense Mutation ATG,GTG M119V NP_001185980.1
NM_001199052.1 768 UTR 3 NP_001185981.1
XM_011510160.2 768 Missense Mutation ATG,GTG M188V XP_011508462.1
XM_011510161.2 768 Missense Mutation ATG,GTG M188V XP_011508463.1
XM_011510162.2 768 Missense Mutation ATG,GTG M182V XP_011508464.1
XM_011510163.2 768 Missense Mutation ATG,GTG M147V XP_011508465.1
XM_011510164.2 768 UTR 3 XP_011508466.1
XM_011510165.2 768 UTR 3 XP_011508467.1
Gene
LEMD1-AS1
Gene Name
LEMD1 antisense RNA 1
There are no transcripts associated with this gene.

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