Product Details

SNP ID
rs200394677
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:53382665 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTCCAGCAGGCTGTCCCCCTCCAA[C/G]GCCTGGCTAATAATGTACTCTCAGG
Phenotype
MIM: 189906
Polymorphism
C/G, Transversion 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_001251825.1 671 Missense Mutation CGC,GGC R192G NP_001238754.1
NM_003109.1 671 Missense Mutation CGC,GGC R233G NP_003100.1
NM_138473.2 671 Missense Mutation CGC,GGC R240G NP_612482.2
XM_011538696.2 671 Missense Mutation CGC,GGC R233G XP_011536998.1

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