Product Details

SNP ID
rs149649759
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:47590777 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGGTGGATGTTGGCTGCAACAGTG[C/G]GAATCATGCGGCCTGGCATGTGCTG
Phenotype
MIM: 601732
Polymorphism
C/G, Transversion 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 2953 Missense Mutation CCC,CGC P1035R NP_003065.3
XM_011534034.1 2953 Missense Mutation CCC,CGC P926R XP_011532336.1

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