Product Details

SNP ID: rs142193069
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:40628942 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTCCTTGTCCTCAGGAGTAGACGTG[C/T]CTTCTTCACCATTCTGTTGGCTCTC
Phenotype: MIM: 603111
Polymorphism: C/T, 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	1203	Missense Mutation	GAC,GGC	D360G	NP_003070.3