Product Details

SNP ID
rs150650952
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:53382760 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACATCACCTTGCTACCTGTCAACAG[C/T]GTTTCTGCAGCTACCTTGACTCCCA
Phenotype
MIM: 189906
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SP1 PubMed Links

Gene Details

Gene
SP1
Gene Name
Sp1 transcription factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001251825.1 766 Silent Mutation AGC,AGT S223S NP_001238754.1
NM_003109.1 766 Silent Mutation AGC,AGT S264S NP_003100.1
NM_138473.2 766 Silent Mutation AGC,AGT S271S NP_612482.2
XM_011538696.2 766 Silent Mutation AGC,AGT S264S XP_011536998.1

View Full Product Details