Product Details

SNP ID
rs150538787
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:21429880 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTCCAAATTAGACCTGGTGTTTCA[A/G]TACCACTGCAGTTACAGACTCTTCC
Phenotype
MIM: 600540
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SP4 PubMed Links

Gene Details

Gene
SP4
Gene Name
Sp4 transcription factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001326542.1 933 Missense Mutation ATA,GTA I222V NP_001313471.1
NM_001326543.1 933 UTR 5 NP_001313472.1
NM_003112.4 933 Missense Mutation ATA,GTA I239V NP_003103.2
XM_005249828.2 933 Missense Mutation ATA,GTA I222V XP_005249885.1
XM_005249829.3 933 Missense Mutation ATA,GTA I239V XP_005249886.1
XM_011515486.2 933 Missense Mutation ATA,GTA I239V XP_011513788.1
XM_011515487.2 933 Missense Mutation ATA,GTA I239V XP_011513789.1
XM_011515489.2 933 Missense Mutation ATA,GTA I239V XP_011513791.1
XM_017012557.1 933 Missense Mutation ATA,GTA I239V XP_016868046.1

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