Product Details

SNP ID
rs145781828
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:154379514 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAACTACGCAGATCTTTCGGATAC[C/G]GAGCTGACCACCTTGCTGCGCCGGT
Phenotype
MIM: 300384 MIM: 300017
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
EMD PubMed Links

Gene Details

Gene
EMD
Gene Name
emerin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000117.2 278 Silent Mutation ACC,ACG T10T NP_000108.1
Gene
FLNA
Gene Name
filamin A
There are no transcripts associated with this gene.

Gene
LOC107987332
Gene Name
uncharacterized LOC107987332
There are no transcripts associated with this gene.

View Full Product Details