Product Details

SNP ID: rs113133575
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.3:47590796 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ACAGTGGGAATCATGCGGCCTGGCA[C/T]GTGCTGCCCGGGCATCATGGAACCT
Phenotype: MIM: 601732
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: SMARCC1 PubMed Links

Gene Details

Gene: SMARCC1
Gene Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003074.3	2934	Missense Mutation	ATG,GTG	M1029V	NP_003065.3
XM_011534034.1	2934	Missense Mutation	ATG,GTG	M920V	XP_011532336.1