Product Details

SNP ID
rs144057094
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:40628899 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGTTCCTTCCTCTGCCATACTGTC[A/G]ACCCCCTCCTGCCCACTCTCCTTGT
Phenotype
MIM: 603111
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SMARCE1 PubMed Links

Gene Details

Gene
SMARCE1
Gene Name
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003079.4 1246 Silent Mutation GTC,GTT V374V NP_003070.3

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